Agammaglobulinemia, Microcephaly, And Severe Dermatitis

Clinical Features

Crow et al. (2006) reported 2 brothers, born to unrelated parents, who had marked microcephaly with significant developmental delay, cleft palate, narrowing of the choanae, blepharophimosis, dermatitis, and agammaglobulinemia with profound B-cell depletion and normal T-cell function. The older sib, who died at age 2 years from bronchopneumonia, also demonstrated other congenital anomalies including severe bilateral coronal synostosis, features of skeletal dysplasia, and distal finger contractions. Chromosome studies in both brothers and their parents were normal. The brothers were separated in birth order by an unaffected sister. A female fetus was recognized on prenatal ultrasound to show abnormalities similar to the oldest brother; postmortem examination at 19 weeks' gestation revealed a tall, flat forehead with anteroposterior flattening of the head, downslanting palpebral fissures, hypoplastic alae nasi with patent choanae, marked retrognathia, U-shaped cleft palate, and low-set ears, with partial fusion of the coronal suture confirmed radiologically and histologically.

Inheritance

Crow et al. (2006) suggested that the inheritance pattern of this disorder was most likely autosomal recessive.