Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities.
Up to seven short-rib-polydactyly (SRP) syndromes have been identified so far with marked clinical and pathological overlap. We describe a 32-week-old, nonhydropic male fetus with thoracic "dysplasia," short limbs, and unilateral postaxial polydactyly. All internal organs were normally developed, including the central nervous system. The external genitalia were unambiguously male, in accordance with a 46,XY karyotype. Radiological signs most closely resembled those of SRP, type Le Marec, though histology of the femoral physeal growth zone was consistent with the Saldino-Noonan type. The remarkable lack of visceral anomalies in conjunction with the radiological and histological findings further adds to the phenotypic spectrum of the SRP syndromes. The histological analysis in this case supports a close relationship between types Saldino-Noonan and Verma-Naumoff-Le Marec.
Hentze
S
S
Institute of Human Genetics, Ruprecht-Karls University, Heidelberg, Germany.
Sergi
C
C
Troeger
J
J
Revell
P A
PA
Otto
H F
HF
Tariverdian
G
G
D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008297:Male; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*