<unk>  is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy <unk> . To date, only 30 cases have been described worldwide. Recently, gene alterations in the ANTXR1 gene have been reported to be causative of this disorder, and an autosomal recessive pattern has been observed. This gene encodes a matrix-interacting protein that works as an adhesion molecule. In this report, we describe 2 homozygous siblings diagnosed with<unk>  carrying a new missense mutation. This mutation produces the substitution of a glutamine in position 137 for a leucine (c.410A>T, p.Q137L).
GAPO syndrome
ATR-X syndrome
ATR-16 syndrome
GRACILE syndrome
MEDNIK syndrome
Kindler syndrome
Hecht Scott syndrome
ZTTK syndrome