Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.
A patient with the diagnosis of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome.
Ramos
F J
FJ
Division of Clinical Genetics, Children's Hospital of Philadelphia, Pennsylvania 19104.
McDonald-McGinn
D M
DM
Emanuel
B S
BS
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D002988:Cloaca / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D010641:Phenotype; D011535:Prune Belly Syndrome / Q000235:genetics*