Scaphocephaly | Radiology Reference Article | Radiopaedia.org In addition to describing the basic components of an obstetrical ultrasound examination in this chapter, we also present extended views that improve the quality of the examination and the detection of pregnancy-related problems. J Ultrasound Med. CI nh hn 75. 7 0 obj My 20 week ultrasound also recvealed abnormal head dimensions and cephalic index of 69. -. Please note the septations in the cavum septi vergae seen as echogenic lines running anteroposteriorly. FIGURE 1.30: Sagittal view of the lateral ventricle at 24 weeks gestation. Morphology Scan Sydney | 19-20 Weeks | Ultrasound Care However, occasionally echolucent structures of varying complexity and size called choroid plexus cysts (CPCs) are present.9193 They can develop in any portion of the choroid plexus, but those that are 3 mm tend to be located in the glomus. Microcephaly - Symptoms and causes - Mayo Clinic Facts about Craniosynostosis. An embryonic pole with a heartbeat is generally detected by the middle of the 7th gestational week (MSD of approximately 18 mm). When found in isolation, risk for aneuploidy is not increased, but it is worth reviewing the results of first trimester screening, and in particular of first trimester biochemistry (both free -hCG (beta human chorionic gonadotropin) and PAPP-A (pregnancy-associated plasma protein A) are low in trisomy 18), to check there are no common themes through different modalities of screening. Between 7 and 11+6 weeks gestation measurements should be within 4 days of dates by LMP (last menstrual period). In the coronal view, the two lateral points of ossification can be visualized cleanly, and by moving the probe anteriorly, ossification of the vertebral body can be brought into view. A pediatric physical therapist can be helpful as you navigate your journey with dolichocephaly. /CreationDate (D:20180611143312+03'00') FIGURE 1.23: Fetal hand with all phalangeal ossification centers visible (13 to 14 weeks gestation). Scaphocephaly - The Ultrasound of Life In utero death occurs in more than 95% of fetuses with this chromosome anomaly. 1.21 and 1.22). For unknown reasons, the rate of survival is higher in females than in males, leading to a female predominance among live-born trisomy 18 infants. Since the corpus callosum is a structure that completes its formation relatively late in pregnancy, the CSPV should not be expected to be visible prior to 18 to 19 weeks gestation. The aortic root Q[4Rj^N'GEq]? Cephalic Index (CI) - fetal ultrasound We evaluated dolichocephaly, the name associated with a no << 6 0 obj At the time the article was created Yuranga Weerakkody had no recorded disclosures. Head showed definitely Dolichocephaly with circumference measuring a week and a half behind. Head Shapes in Infants: When Is It Really Craniosynostosis? FIGURE 1.17: Transverse view of the abdomen at 13 weeks gestation at the level of abdominal cord insertion (arrow). Measurement according to standardized methodology allows individualized levels of risk for trisomy 21, 18, and 13 to be calculated. This is because of the fact that they are the easiest to obtain and are very familiar to operators who are involved in fetal scanning. It can also be seen in conditions where the skull is poorly ossified such as certain types of osteogenesis imperfecta and hypophosphatasia. Asterisk, center of the circle of Willis; notched arrow, cerebellum. 1.9). B,&uT>|Z'%,B!yZ~ayZpStTON"vl4sEJ{"=9#/j4UM. Premature closure of multiple cranial sutures restricts expansion of the skull, particularly with advancing gestation, resulting in a cloverleaf appearance. Some mild cases of dolichocephaly and other instances of misshapen skulls will not require treatment, as they will generally just resolve as your baby grows. /AIS false Microcephaly may be genetic. At this point, the CRL is defined as measurement between the top of the fetal head and the fetal rump along its longitudinal axis (Fig. The vertebrae have three ossification centers visible prenatally: Vertebral body anteriorly and one in each of the vertebral arches (laminae) posteriorly. no financial relationships to ineligible companies to disclose. Dolichocephaly most commonly occurs in preterm infants in the NICU: so-called NICUcephaly. a, atria. stream "iM.1,O`jpW}&kG3k}-:(Ht-%mV(uJ]J5/qBS(w$|a>=*>3aPtP4(Ey=:tS{FB[@}XtVu/Zj0LMD6iBQ~eg- b28|0@WY6>!Q*D&;&\C4jK)wlrgGDu+^QR'[nV=MC@ C6?jFBE[T-lQ @-9,~\(?KMq9_pJ^(3EGR6S/^+rv7y~ The approach to the anatomical survey is essentially the same in both the second and the third trimesters. You can find out more about our use, change your default settings, and withdraw your consent at any time with effect for the future by visiting Cookies Settings, which can also be found in the footer of the site. /SMask /None>> These are generally located in the occipital portion of the calvarium, but can be seen less frequently in the area of the nasal root anteriorly or parietally. A thin line of hair along the fetal back (arrows) is seen. Using 3D ultrasound (Figs. Our data suggest that craniosynostosis could be diagnosed antenatally in a significant number of cases. ", However, some severe cases of dolichocephaly can be more serious and may affect your babys health and development. Estimation of fetal weight by ultrasound is notoriously inaccurate. At 20 weeks gestation, the upper limit of normal is considered to be 10 mm, although recently some authors have suggested that even measurements up to 12 mm are very unlikely to be associated with significant pathology.8790 The ventricles become less prominent with advancing gestation although a threshold of measurement <10 mm is typically also used in the third trimester. Dolichocephaly With BPD 5% - Page 2: In my 20 week scan I was told below There is a single intra-uterine viable foetus with no morphological abnormality detected. Healthy Children. FIGURE 1.24: Fetal foot (arrow) with all five toes visible (12 to 13 weeks gestation). Note the formation of a cyst-like structure in B. Calipers, cisterna magna measurement; c, cerebellar hemispheres. They are linear in shape and form a roof over the spinal canal (Fig. Biparietal diameter is used to estimate fetal weight and gestational age. The use of obstetric ultrasound in the antenatal diagnosis of Often, the region of interest can be effectively identified using grayscale prior to employing Doppler, resulting in reduced energy exposure to the fetus. . Scientific World Journal. The case was diagnosed to be a variant of Miller-Dieker syndrome (MDS). 1.5). But most of the time, these occur after birthwithin the first 4 to 12 weeks, when babies spend a lot of time lying flat and are less mobile. 1.25 and 1.26). Septations within the CM are a common finding and occasionally they can simulate a small cyst. WTE Must Reads Featured Discussions Jump to Your Week of Pregnancy Pregnancy Week 1 Pregnancy Week 2 Pregnancy Week 3 The CM is a CSF-filled structure that is located behind the cerebellum. Confirm that the fetal heart is beating. ASSESSING FETAL ANATOMY DURING THE SECOND AND THIRD TRIMESTERS. Please note the increased echogenicity of the roof of the third ventricle extending into the foramina of Monro. The calvarium will be completely absent in anencephaly. Note the differences in their appearance depending on the level. According to the AAP, most cases of misshapen infant heads or skull deformities are not serious and do not affect the health or well-being of an infant. 1.17). However, many experts in the field advocate the use of additional views to improve diagnostic performance. Sagittal craniosynostosis, also called scaphocephaly or dolichocephaly, is the most common type of craniosynostosis, which occurs when bones in an infant's head fuse together abnormally.The experienced doctors at St. Louis Children's Hospital have been treating scaphocephaly for decades. As the U.S. National Library of Medicine explains, "The long-term consequences of dolichocephaly are not fully known, but it has been correlated with delayed reaching skills, tightness in the spinal extensors and scapular retractors, and development of motor asymmetries.". The cephalic index (CI) is a ratio/value calculated using two fetal biometric parameters which are the occipitofrontal diameter (OFD) and the biparietal diameter (BPD). Prenatally ultrasound can reveal clinical features of arthrogryposis multiplex congenita/fetal akinesia . Care should be taken with caliper placement as the authors of some charts measure from the outer aspect of the calvarium in the near field to the inner aspect of the calvarium in the far field, while others use an outerouter approach. When performed, the examination is generally limited to determination of the location and number of gestations present, determination of chorionicity in cases of multiple gestations, assessment for viability, and estimation of gestational age.46 Although the anatomy of embryo is not typically examined in detail, a variety of severe congenital anomalies (e.g., severe amniotic band syndrome, body-stalk anomalies, and conjoined twins) may be identified even at this point. 1.44). Alternatively, an apparently increased antero-posterior length of the head compared to width. The BPD is assessed using an axial image of the head at a level where standard anatomic landmarks are visible: The globular and slightly hypoechoic paired structures representing the thalami in the midportion of the head with a slit-like hypoechoic structure representing the third ventricle located between them, the cavum septi pellucidi (CSP) in front of the thalami, and the lateral ventricles, with the frontal horns seen anteriorly and the atria (trigones) seen posteriorly. Even though operculization of the insula begins at approximately 14 weeks gestation, on ultrasound, this process does not become evident until approximately 19 weeks gestation. Scaphocephaly. 1.30 to 1.33). Dolichocephaly With BPD 5%: In my 20 week scan I was told below There is a single intra-uterine viable foetus with no morphological abnormality detected. One of the roles of a pediatric cardiologist who suspects or diagnoses a genetically determined connective tissue disease (e.g., Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes) is to assess whether the aortic root is dilated. Calipers, transcerebellar diameter; cp, cerebral peduncles; t, thalami; open arrow, insula; asterisk, cavum septi pellucidi; chevron, falx cerebri. 1.46). The CSP and its posterior extension, the cavum septi vergae (CSV), are seen as a continuous hypoechoic structure located in the midline. 1 0 obj Employing the transvaginal route to image a fetus that is cephalic in presentation can facilitate a detailed examination of the intracranial anatomy. B: Slightly more caudal section of the same fetus demonstrating the course of the middle cerebral artery (solid arrow) to the base of the insula (open arrow) with color Doppler. . Appointments & Locations. The number of fingers is relatively easy to assess in the first trimester as all fingers, including the thumb, lie in approximately the same ultrasound plane (Fig. Anterior cerebral (open arrow) and pericallosal (solid arrow) arteries with some of their branches are demonstrated using color Doppler. In babies with craniosynostosis, the brain stops growing in the part of the skull that has closed too quickly, while other parts of the brain continue growing. FIGURE 1.10: Coronal view of the fetal face. FIGURE 1.47: Sagittal view of the spine in mid-second trimester demonstrating its normal curvature. B: Axial view in a plane slightly caudal to A, where the cavum septi pellucidi (solid arrow) and cavum septi vergae (open arrow) are seen as two separate structures. 2019;131:56-62. doi:10.1016/j.earlhumdev.2019.03.002. Dhnert W. Radiology Review Manual. Wendy Wisner is a lactation consultant and writer covering maternal/child health, parenting, general health and wellness, and mental health. Note that this is a neonatal image to show the anatomy in its entirety. 1.8). Why Do Babies Have More Bones Than Adults? Please note the difference in anatomic detail between the proximal and distal half of the brain. An abnormal skull shape can also lead to difficulties with chewing, swallowing, vision, and breathing. Dont be afraid to contact your pediatrician or other healthcare provider with questions. The breadth of the skull is the distance between the most projecting points at the sides of the head, usually a . We evaluated dolichocephaly, the name associated with a nonsynostotic cause to be a physiological variant having no prognostic value, to that of a similar synostotic or secondary to a. In the majority of cases, the glomus is homogeneous in its ultrasound appearance. According to the American Academy of Pediatrics (AAP), misshapen heads and skull deformities occur about 20% of the time during childbirth or as a result of a babys position in the womb. h, head. The sagittal suture permits growth in the width of the skull; premature closure results in a cranium that is high, long, and narrow (dolichocephaly). cp, choroid plexus; thick solid arrow, frontal horn; open arrow, body of the lateral ventricle; chevron, trigone; thin solid arrow, portion of the occipital horn; notched arrow, inferior (temporal) horn. (PDF) New Screening Tool for Aortic Root Dilation in Children with 29 Gynaecology & Obstetrics Italian Journal of December 2018 - Vol. CQ#A Dolichocephaly has two primary causes: craniosynostosis or positioning. If thats the case for you, you may have a lot of questions about this condition, what it means for your baby, and what treatment options are available. (2005) ISBN:1588901475. Sagittal Craniosynostosis - St. Louis Children's Hospital FIGURE 1.40: A: Axial section of a fetal head at 20 weeks gestation demonstrating the insula at an early stage of operculization (open arrow) with the middle cerebral artery (color Doppler) at its base (solid arrow). The fetal head and upper torso occupy the majority of the image, and the fetus is in a neutral position. Early Hum Dev. Several national and international bodies have described standards for imaging in the first, second, and third trimester of pregnancy. The choroid plexus does not extend into the anterior horn of the lateral ventricle; therefore, cystic structures seen anterior to the caudothalamic notch will have a different underlying etiology. 1.34). FIGURE 1.50: Superficial coronal view along the fetal back in the third trimester. The exam was . Selected Safety Recommendations for Diagnostic Ultrasound, Ultrasound exposures that elevate fetal temperature by 4C above normal for 5 min or more have the potential to induce severe developmental defects, Apply the ALARA principle if the tissues to be exposed contain stabilized gas bodies (lung) and the MI exceeds 0.4, There is no epidemiologic support for a causal relationship between diagnostic ultrasound during pregnancy and adverse biologic effects to the fetus observed for outputs under a spatial-peak temporal-average intensity of 94 mW/cm2, The temperature of the fetus should not safely rise more than 0.5C above its normal temperature, When MI is above 0.5 or the TI is above 1.0, the NCRP recommends that the risks of ultrasound be weighed against the benefits. Dolichocephaly (Concept Id: C0221358) An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Calipers, CRL measurement; d, diencephalon; m, mesencephalon; r, rhombencephalon. Absence of an ossified calvarium in association with abnormal intracranial anatomy is consistent with exencephaly/anencephaly sequence. The sagittal suture usually begins closing later in life, at around 2130 years of age. Disruption of the skull can also occur at more unusual sites, especially when it is caused by amniotic bands. Virchow correlated head shape with the fusion of specific sutures and introduced some definitions that are still in general usage such as dolichocephaly for sagittal synostosis, trigonocephaly for metopic synostosis, and plagiocephaly for unilateral coronal synostosis. The exact timing of the examination may also depend on maternal habitus. These diagnoses can be difficult to tease out and depend on findings in axial, midsagittal, and coronal sections. Fetal measurements are concordant with dates, apart from BPD below 5th centile reflecting dolichocephaly. v, lateral ventricles; solid arrow, ocular orbit with a lens within it; chevron, maxilla; open arrow, body of the mandible. Both axial and coronal views are often required in order to identify them with confidence (Figs. Neurologia Medico-Chirurgica. This chapter deals with normal fetal anatomy; however, frequent references to anomalies are made to underscore the pertinence of a good anatomic evaluation. Intracranial anatomy is complex and gestational agedependent owing to rapid embryologic and later fetal development.86 The sections most commonly employed to look at the fetal anatomy are axial ones. Turri-, acro- and oxy-cephaly are associated with a cephalic index of 80 or more. Routine examination of the posterior fossa is critical to detect not only anomalies that originate in the posterior fossa but also changes that are indicative of problems in the spine. endobj Z@N /Producer ( Q t 4 . Centers for Disease Control and Prevention. FIGURE 1.38: Sagittal view of the fetal head at 22 weeks. ICD 10 code for Maternal care for other (suspected) fetal abnormality and damage, not applicable or unspecified. Likus W, Bajor G, Gruszczyska K, et al. Using transvaginal ultrasound, the presence of an intrauterine gestational sac can be consistently demonstrated by the completion of the 5th week of gestation. Effective prenatal diagnosis relies on a high standard of imaging. zW1}>P Scaphocephaly(also known as dolichocephaly) is the most common form of craniosynostosis, where premature closure of the sagittal suture results in an impediment to the lateral growth of the skull while anteroposterior growth continues, producing a classic elongated, yet narrow, skull. FIGURE 1.34: Sagittal view of the fetal head at 24 weeks gestation. In the axial view, this defect translates into flattening of the cerebellar hemispheres with an anterior bend (so-called banana sign) and obliteration of the CM.84,85,9799 Finally, since most cephaloceles and encephaloceles are located in the occipital region of the skull, examination of the posterior fossa must also include a careful evaluation of the calvarium in that region.100, The formation of the cerebellar hemispheres and the connecting vermis continues throughout the first half of the pregnancy. Dolichocephalic head shapes are relatively rare in cultures where infants sleep supine. Scaphocephaly (also known as dolichocephaly) is the most common form of craniosynostosis, where premature closure of the sagittal sutureresults in an impediment to the lateral growth of the skull while anteroposterior growth continues, producing a classic elongated, yet narrow, skull. FIGURE 1.29: Axial view of the fetal head at the BPD level. Healthcare providers use ultrasound exams for several purposes, including during pregnancy, for diagnosing conditions and for image guidance during certain procedures. The proportion of the cranial cavity that it fills progressively increases as the gestation advances. Nuchal translucency assessment is easier to perform and more sensitive at an earlier gestation (11 to 12 weeks), whereas anatomy is best assessed at a slightly later gestation (12 to 13 weeks).8 The examination may be performed transabdominally, and if necessary transvaginally, but a combination of the two approaches often yields the best results. 1.29). 1.24). Because sutures are fluid, they allow the brain to grow and develop. 1.15 and 1.16). Understanding Vaginal Tears During Labor and Delivery. c, cerebellar hemispheres. Dolichocephalic definition: having a head much longer than it is broad , esp one with a cephalic index under 75 | Meaning, pronunciation, translations and examples Both individual vertebrae and their skin covering should be evaluated by sliding the transducer along the entire length of the spine. 22 week US baby head was oval and stated possible dolichocephaly but needed repeat scan at 24 weeks. The Evolution of the Role of Imaging in the Diagnosis of These positions are used to protect premature babies' healthincluding decreasing their risk of reflux, apnea, and bradycardiabut unfortunately can result in dolichocephaly. {"url":"/signup-modal-props.json?lang=us"}, Weerakkody Y, Ithiga M, Avendao T, et al. Assessment of the central nervous system is not complete without detailed examination of the fetal spine. Normal Fetal Ultrasound Survey | Radiology Key 2014;2014:502836. doi:10.1155/2014/502836. {"url":"/signup-modal-props.json?lang=us"}, Gaillard F, Bell D, Zivic L, et al. This scan can be done anytime between 18-22 weeks of your pregnancy but ideally around the 20 week mark. 4) The temporomandibular joint (TMJ) conducts and restrains masticatory movements between the mammalian cranium and the mandible.Through this functional integration, TMJ morphology in wild mammals is strongly correlated with diet, resulting in a wide range of TMJ variations. anyone have a baby with this condition? endobj The cephalic index is the scale to measure the size of the baby's head. Vi s pht trin qu mc sm ca ng khu sagittal (bao hot dch sagittal), tt u dolichocephaly pht trin, trong hp s tng ln theo hng trc sau v gim kch thc theo chiu ngang. Thank you, {{form.email}}, for signing up. The falx cerebri is seen as an echogenic line running in the anteroposterior direction. Sometimes it is called dolichocephaly, as 'dolicho' means long. FIGURE 1.18: Transverse view of the abdomen at the level of the kidneys (arrows) at 12 weeks gestation (A) and at 13 weeks gestation (B). Often, axial views are best for assessing the integrity of the skin. Note that CVA will be symmetric in symmetric brachy-, and dolichocephaly. If it appears to be exceptionally large, it can be objectively assessed by measurement of its anteroposterior diameter in an axial section of the posterior fossa (Fig. 1.43). The normal range is 76-80.9%. The CSPV begins to close in the third trimester, a process that is completed in infancy. 21 related questions found. Psychological problems such as poor self-esteem and depression can also occur as the child gets older. Prominent pulsations can be seen at the bottom of the depression, which represents the Sylvian segment of the middle cerebral artery (Fig. A cystic midline structure that is occasionally seen located posteriorly and inferiorly to the CSV is the cavum veli interpositi (Fig. It represents a space between the two septi pellucidi, which is filled with cerebrospinal fluid (CSF). The TCD is measured in an axial section using the suboccipitobregmatic view. Trong nhng trng hp nh vy, u hp v di ra. Reference article, Radiopaedia.org (Accessed on 04 Mar 2023) https://doi.org/10.53347/rID-15495, View Yuranga Weerakkody's current disclosures, View Munyi Ambrose Ithiga's current disclosures, see full revision history and disclosures, 1. The midsagittal section of the fetus is very important, as this allows accurate measurement of CRL and, when adequately magnified, nuchal translucency (Fig. It is measured with the cursor placed on the outer edge to the outer edge of the cranial bone. Microcephaly, a diagnosis that is seldom confirmed postnatally . Three-dimensional (3D) ultrasound can be a useful adjunct to 2D ultrasound in select circumstances and will be discussed in Chapter 2. [/Pattern /DeviceRGB] Using this method, the accuracy of sex determination is only 70% at 11 weeks gestation but increases to nearly 100% at 13 to 14 weeks gestation.59. C: Arrow, cisterna magna. anyone dealt with this? Gestational age is 20 weeks, 1 day, with EDD of 09/01/2023 by the clinical dates given. Wendy Wisner is a lactation consultant and writer covering maternal/child health, parenting, general health and wellness, and mental health. /ca 1.0 Table 1.2 Selected Safety Recommendations for Diagnostic Ultrasound Ultrasound exposures that elevate fetal temperature by 4C above normal for 5 min or more have the potential to induce severe developmental defects Apply the ALARA principle if the tissues to be exposed contain stabilized gas bodies (lung) and the MI exceeds 0.4 M i c r o c e p h a l y , a d i a g n o s i s t h a t i s s e l d o m c o n f i r m e d p o s t n a t a l l y .) Open arrow, pulmonary artery; solid arrow, aorta; chevron, superior vena cava. FIGURE 1.3: Sagittal view of an 8-week gestation. The accuracy of CRL measurement decreases with gestational age. When three or more of these characteristics are present, 1 point is added to the systemic score. FIGURE 1.15: Transverse view of the abdomen at 13 weeks gestation at the level of the abdominal circumference. 1.2). It can be difficult to distinguish from an arachnoid cyst located at the quadrigeminal cistern.94,95. Fusion of all sutures produces a tall pointed skull known as acro- or oxy-cephaly. Beginning with the 8th week of gestation, the embryonic head and torso become identifiable. Dolichocephaly (or positional scaphocephaly) is defined as a boat-shaped or elongated anterior-posterior axis as a result of skull flattening during side-to-side head positioning of infants during hospitalization. It is best assessed in the midsagittal section. Ultrasound: What It Is, Purpose, Procedure & Results - Cleveland Clinic If a cerebellar defect or ventriculomegaly is suspected, the fourth ventricle should be evaluated. Routine examination of the intracranial anatomy should always include identification of these structures. Anyone had this and how did it turn out? FP Hadlock, RL Deter, RJ Carpenter, SK Park. What are synonyms for dolichocephaly? Note the relatively prominent adrenal glands (a), which need to be kept in mind in order not to mistake them for the kidneys. Fetal anatomy is best assessed at 20 to 24 weeks gestation. Asterisk, heart; chevron, aorta; open arrows, ductus venosus and its corresponding waveform; solid arrows, hepatic artery and its corresponding waveform; uv, umbilical vein; ua, umbilical artery; fa, femoral artery. Babys heads are made of several soft plates that havent fully fused together at birththis flexibility helps babies pass more easily through the birth canal, and makes the rapid brain growth that happens during your babys first 12 months possible. << This is the main ultrasound scan that is obtained during the pregnancy. A Morphology scan is a recommended ultrasound examination of your pregnancy at 19-20 weeks gestation. FIGURE 1.49: Sagittal view of the lumbar spinal cord (solid arrow) ending in the conus medullaris (notched arrow) in late second trimester. PDF Italian Journal of Gynaecology & Obstetrics The lateral ventricles are essentially filled by choroid plexi, which are seen as paired echogenic structures, one within each hemisphere (butterfly view). In this rare case, surgery is very successful after birth to correct the problem. In some cases, the dolichocephaly resolves by the time the baby goes home, but in other cases, it remains, and babies are discharged from the hospital with dolichocephaly. Abnormalities such as frontal bossing, which are part of a number of skeletal dysplasias or a sloping forehead present in conditions such as microcephaly, are best visualized in this fashion. The length of the skull is the distance from the glabella (the midpoint between the brows) and the most projecting point at the back of the head. Orphanet: Trisomy 18 >> aawamy 21/02/15. On this page: Article: Epidemiology Pathology Dolichocephaly With BPD 5% - January 2023 Birth Club The breech head and its ultrasound significance - PubMed The vertebral body ossification center is round and is located in the midline. Examination of the CSPV in the sagittal section will help to elucidate the diagnosis (see Fig. Mosby Inc. (2009) ISBN:0323031250. . So worried s, stomach; L, liver; arrow, portal sinus. Dolichocephaly - ULTRASOUNDPAEDIA facial appearance (dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures) Involvement: at least 2 major criteria or 1 major and 2 minor Ocular Major ectopia lentis Minor abnormally flat cornea (as measured by keratometry) increased axial length of the globe (as measured by ultrasound)