Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome
HM Hoffman, JF Bastian, LM Bird - Clinical Dysmorphology, 2001 - journals.lww.com
We report a 6 year old girl with an isolated humoral immune deficiency and a unique
combination of dysmorphic features. Physical findings include microcephaly, micrognathia,
sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4–5 syndactyly of
toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic
findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal
growth retardation and her development is substantially slower than her twin's. Her clinical …
combination of dysmorphic features. Physical findings include microcephaly, micrognathia,
sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4–5 syndactyly of
toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic
findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal
growth retardation and her development is substantially slower than her twin's. Her clinical …
