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Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome

Editor,—We describe a family with chorioretinal dysplasia, microcephaly, mental retardation, and lymphoedema.

The proband presented with a severe multiple malformation syndrome, with anomalies of the brain, heart, and eyes. Ocular anomalies included microphthalmia and chorioretinopathy. Pedal lymphoedema was obvious at birth. These features overlap with three previously distinguished conditions (microcephaly with chorioretinopathy (MIM 156590), microcephaly with microphthalmia and retinal folds (MIM180060), and microcephaly and lymphoedema (MIM152950), and this suggests that they can be the variable expression of a single entity. In all children with microcephaly, a history of pedal oedema and detailed eye examination are essential.

### CASE REPORTS

The index patient, a male, was born as the second child, to unrelated parents. He was born at a gestational age of 37 weeks by elective caesarean section for unexplained intrauterine growth retardation. He was severely microcephalic and had marked lymphoedema of the dorsum of both feet. Facial features were peculiar with, in addition to the microcephaly, low set ears and retrognathia. There was a transverse palmar groove on the left side, a right sided hydrocele and cardiac examination revealed the presence of an atrial septal defect, a small ventricle septal defect, and a right aortic arch. Neurological examination revealed axial hypertonia and severe developmental delay. Axial T1 weighted MR image at 4 months showed microcephaly …