Short reportA familial syndromal form of omphalocele
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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