Searchable abstracts of presentations at key conferences in endocrinology

ea0036P71 | (1) | BSPED2014

A novel de novo heterozygous mutation in FGFR1 is associated with Hartsfield syndrome

Prasad Rathi , Brewer Carole , Burren Christine P

Introduction: Hartsfield syndrome (#OMIM 615465) describes the rare co-occurrence of holoprosencephaly with ectrodactyly, associated with a spectrum of developmental defects including specific pituitary dysfunction.Case report: Our patient, a male infant, had several congenital abnormalities: bilateral cleft lip and palate, right sided microtia, bilateral ectrodactyly of the hands and feet and semilobar holoprosencephaly. Aged 5 weeks he was noted to be ...