Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance

Clinical Features

Hansen et al. (2009) reported a sister and brother of Danish descent with microcephaly, postnatal growth retardation, delayed development, cataracts, and hearing loss. Both had a distinctive facial appearance, with almond-shaped eyes, upslanting palpebral fissures, epicanthus, bulbous nose, hypoplasia of the nasal alae, and receding chin. Brain CT scan showed generalized atrophy, and radiographs showed generalized shortening with metaphyseal broadening and delayed bone age. Other features included dry skin and eczema, genital hypoplasia, and seizures in the girl. The girl developed an egg allergy, which disappeared later, and the boy developed allergies to eggs, nuts, and dogs. Routine laboratory tests were normal. Hansen et al. (2009) postulated autosomal recessive inheritance and noted phenotypic similarities to Dubowitz syndrome (223370).