Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome

We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include micr ocephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, then ar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterio r anus, and hypoplastic labia minora. Radiographic findings include triphal angeal thumbs and hypoplastic first metatarsals. She has postnatal growth r etardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglob ulinaemia, absent B cells, and a 46,XX karyotype. A review of the literatur e and the London Dysmorphology Database did not produce any recognizable sy ndromes that match her constellation of findings. She may represent a uniqu e syndrome of unknown etiology. Clin Dysmorphol 10: 1-8 (C) 2001 Lippincott Williams & Wilkins.