title: Craniofrontonasal dysplasia in two male sibs.
abstract: Craniofrontonasal dysplasia (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and hypertelorism. The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. At 23 weeks, the ultrasound scan detected a number of dysmorphic features and the pregnancy was terminated. Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles. This report highlights the occurrence of CFND in two male siblings born to normal parents, and therefore the need to perform prenatal ultrasound in a subsequent pregnancy, even if CFND is diagnosed in an isolated case.
authors.affiliation: Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
authors.forename: U
authors.initials: U
authors.lastname: Natarajan
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
authors.forename: K
authors.initials: K
authors.lastname: Nicolaides
authors.forename: C
authors.initials: C
authors.lastname: Gosden
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities*