Short report
A familial syndromal form of omphalocele

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Abstract

Omphalocele is a relatively common developmental anomaly of the abdominal wall. Isolated omphalocele is generally regarded as a sporadic malformation with a negligible recurrence risk, although rare familial occurrences have been reported, compatible with AD, AR and XLR inheritance. Omphaloceles occurring in a syndromal context are strongly correlated with various types of chromosomal anomalies. Few monogenic syndromes have a high frequency of omphalocele. We report a family with facial dysmorphism somewhat reminiscent of Robinow syndrome (flat face, very short, upturned nose, very long and unusually wide philtrum, and flattened maxillary arch), observed in 3 generations. Four sibs in the second generations had large omphaloceles. One child had ectrodactyly. Genomic rearrangements, and WNT5A or ROR2 mutations were excluded in this family. At this point, we feel reasonable to consider this family as expressing a “new” syndrome related but different from Robinow syndrome, associating facial dysmorphism and abdominal wall defect, and compatible with dominant inheritance with variable expressivity, although recessively inherited omphalocele occurring in a family showing independently some dominant craniofacial peculiarities cannot be ruled out.

Introduction

Omphalocele is a relatively common developmental anomaly of the abdominal wall. Most cases are sporadic. Syndromal forms are strongly correlated with various types of chromosomal anomalies. Few monogenic syndromes have a high frequency of omphalocele, except Beckwith–Wiedemann syndrome. The aim of the manuscript is to describe a possibly new syndrome based on a family in which omphalocele was present in several patients whose facial dysmorphism is reminiscent of Robinow syndrome.

Section snippets

Patient 1

The proband, a boy, was born at term. Birth weight (BW) was 2760 g, birth length (BL) 48 cm, occipitofrontal head circumference (OFC) 33,5 cm, at 39 weeks of gestation (WG) (all values in the normal range). He was referred to the genetic clinics of Pointe à Pitre (French West Indies) for a complex malformation of the right hand, consisting in complete cutaneous syndactyly between thumb and index, absence of fingers III and IV, but normal finger V. At age 14 months, his height was 76 cm (+0.3 SD),

Discussion

Delineation of an apparently unreported clinical entity is a complex procedure, in which often enters a part of subjectivity, when the recognition of the syndrome relies on definitively soft, subjective elements, such as dysmorphic traits, and not on hard, major anomalies. Despite incomplete investigation of some patients from this family, the pedigree we report here appears to express a quite unusual pattern of anomalies. Nevertheless, from a syndromologic perspective, the interpretation of

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