RESEARCH LETTER Prenatal sonographic features of cranioectodermal dysplasia T. Muttusamy 1 * , A. Ma 2,3 , I. Sinnerbrink 2 , A. E. Quinton 4 , M. J. Peek 5 and S. Joung 1 1 Department of Obstetrics and Gynaecology at Nepean Hospital, New South Wales, Australia 2 Department of Clinical Genetics, Nepean Hospital, New South Wales, Australia 3 Disciplines of Genetic Medicine, Child and Adolescent Health, Children’s Hospital Westmead Clinical School, Sydney University, New South Wales, Australia 4 Medical Sonography, School of Health, Medical and Applied Science, Central Queensland University, Australia 5 Medical School, College of Medicine, Biology and Environment, The Australian National University, Australia *Correspondence to: T. Muttusamy, E-mail: thanursini_246@hotmail.com Funding sources: None Conflicts of interest: None declared Cranioectodermal dysplasia, also known as Sensenbrenner syndrome, is a rare disorder characterised by craniofacial, skeletal and ectodermal abnormalities. 1,2 It is also part of a very rare group of conditions called ciliopathies, where abnormalities of the kidney (renal concentrating problems and nephronophthisis), liver (hepatic fibrosis), skeleton, and eyes (retinal dystrophy) can develop with time as well as other problems such as neurodevelopmental delay. 3 We report a case of cranioectodermal dysplasia (CED), diagnosed postnatally which showed early features prenatally. A healthy 26-year-old multigravid woman was referred to us at 17 weeks of gestation with a nuchal thickness of 3.2 mm and a risk for trisomy 21 of 1:372. Her obstetric history included two previous deliveries. Both children are well. She was otherwise healthy with no significant family history, including no history of global developmental delay, ataxia or seizures. Her tertiary morphology ultrasound at 17 weeks of gestation showed cerebellar hypoplasia with a transcerebellar diameter of 15 mm (<5th centile) (Figure 1a), and mild bilateral cerebral ventriculomegaly (11 mm on both sides) (Figure 1b). No other structural abnormalities were identified at this stage. Magnetic Resonance Imaging (MRI) at 21 weeks of gestation identified mild asymmetrical prominence of the left lateral ventricle (with maximal width of occipital horn measuring 8.5 mm), and mild hypoplasia of cerebellum with widening of retrocerebellar CSF spaces (measuring up to 8 mm in the mid-sagittal sections through the fetal cranium). She underwent an amniocentesis which showed a male fetus with normal chromosome microarray (60 K Agilent) results. At 28 weeks of gestation, both cerebral ventricles’ sizes improved (7 mm on each side) as did the transcerebellar diameter – 31.3 mm (11th centile). There was, however, evidence of craniosynostosis affecting coronal sutures bilaterally (Figure 1c). The cerebellar size continued to show satisfactory growth over the rest of the pregnancy. She went into spontaneous labour at 38 weeks of gestation and delivered a live male infant by ventouse delivery with Apgar scores of 9 (5 min) and 9 (10 min), birth weight of 3.65 kg (50-90th percentile), birth length 48 cm (10–50th percentile) and head circumference 36.5 cm (>90th percentile). Placental histopathology revealed a two vessel umbilical cord and subchorionic fibrin deposition. Postnatally, head ultrasound and MRI showed normal ventricles and cerebellum, but craniosynostosis in both lambdoid and coronal sutures was confirmed. Over his first 6 months, the following features were observed: dolichocephalic head, frontal bossing (Figure 1d), hypertelorism with deep set and upslanting eyes, small chin, low set posteriorly rotated ears, right single transverse palmar crease, dysplastic fingernails, dry skin with associated eczema, and very sparse scalp hair. An abdominal ultrasound showed mild dilatation of the common bile duct and kidneys measured small for age (<5th percentile). Given the craniosynostosis and characteristic skull appearance, and ectodermal features (thin sparse hair, dry skin, dysplastic nails), a clinical diagnosis of CED was made. A targeted capture panel of the known four CED genes (IFT 122, WDR35, WDR19, and IFT143) was performed by next-generation sequencing (Fulgent Diagnostics, Temple City, CA, USA), following their in-house library preparation and variant calling protocols. This covered 100% of the coding regions at least 10× coverage and 99.9% of splicing junctions at 20× coverage. Only variants classified according to ACMG guidelines 4 as pathogenic, likely pathogenic or unknown significance were reported. No mutations were found in these four genes. Cranioectodermal dysplasia is a multisystem disorder of the ciliopathy family. Features include skeletal involvement (narrow thorax, shortened proximal limbs and brachydactyly), ectodermal involvement (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth retardation and characteristic facial features (frontal bossing, low set simple ears, high forehead, telecanthus/epicanthus, full cheeks, everted lower lip). 2,3 Prenatal Diagnosis 2017, 37,1–3 © 2017 John Wiley & Sons, Ltd. DOI: 10.1002/pd.5037