Pelvic Hypoplasia With Lower-Limb Arthrogryposis

Clinical Features

Sarralde et al. (1998) described 4 brothers and a sister from a sibship of 9 who had a seemingly distinctive syndrome with prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes in the lower limbs. The propositus was approximately 150 cm tall at the age of 16 years. The parents were not known to be related; however, they and the 4 grandparents were born in the same small village of western Mexico. The authors suggested that the disorder most closely resembled that reported by Ray et al. (1986).

Inheritance

Sarralde et al. (1998) suggested that the inheritance pattern of the disorder in this Mexcian family was autosomal recessive.