Preferred Label : Fibuloulnar aplasia or hypoplasia with renal abnormalities;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Saito et al. (1989) described 2 sibs, a male and female born of a nonconsanguineous,
relatively young couple, with a lethal acrorenal developmental complex. Both died
of respiratory failure in the neonatal period. Radiologic features were symmetric
mesomelic shortness of the limbs, fibular agenesis, oligosyndactyly, micrognathia,
and hypoplastic ulna. The ears were abnormally formed, and the kidneys were cystic
or hypoplastic. Some of the features, such as malformed ears and respiratory failure,
are consistent with Potter sequence; however, the disorder appeared to be different
from previously described forms of fibular aplasia/hypoplasia (Lewin and Opitz, 1986).
Autopsy in the brother showed truncus arteriosus and ventricular septal defect. In
the second pregnancy, that of the male, ultrasound detected 2 gestational sacs early
in the pregnancy; one contained a fetus and the other regressed and disappeared by
15 weeks' gestation. *FIELD* RF 1. Lewin, S. O.; Opitz, J. M.: Fibular a/hypoplasia:
review and documentation of the fibular developmental field. Am. J. Med. Genet. 25
(suppl. 2): 215-238, 1986. 2. Saito, N.; Kuba, A.; Tsuruta, T.: Lethal form of fibuloulnar
a/hypoplasia with renal abnormalities. Am. J. Med. Genet. 32: 452-456, 1989. *FIELD*
CS Growth: Neonatal death Resp: Respiratory failure;
Inheritance : Autosomal recessive;
Prefixed ID : 228940;
Origin ID : 228940;
UMLS CUI : C1856727;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
