Fetal abnormalities » Skeleton
Short rib polydactyly syndrome
- 1 in 500,000 births.
- Micromelia, short ribs with hypoplastic thorax, polydactyly (usually preaxial).
- There are four types of short-rib polydactyly syndrome:
- Type I (Saldino-Noonan): narrow metaphyses.
- Type II (Majewski): facial cleft and disproportionally shortened tibiae.
- Type III (Naymoff): wide metaphyses with spurs.
- Type IV (Beemer-Langer): median cleft lip and ambiguous genitalia in some 46,XY individuals.
- Heart defects, polycystic kidneys, brain malformations and intestinal atresia.
- Detailed ultrasound examination.
- If pregnancy continues, follow-up should be standard.
- Standard obstetric care and delivery.
- The condition is lethal due to severe pulmonary hypoplasia.
- Autosomal recessive inheritance: 25%.