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Intrafamilial variability of popliteal pterygium syndrome: a family description.
Cleft Palate J. 1986 Jul; 23(3):233-6.CP

Abstract

Popliteal pterygium syndrome is one of the autosomal dominant limb pterygium syndromes. It has incomplete penetrance and extreme phenotypic variability that leads to difficulty in diagnosis. A case is presented to emphasize the variable phenotype of this disorder. The absence of pterygia in the family members led to the misdiagnosis of van der Woude's syndrome. However, the presence of a pyramidal fold of skin over the nail of the hallux in family members suggested the diagnosis of popliteal pterygium syndrome. It is concluded that the presence of this distinctive nail abnormality in infants with cleft lip, cleft palate or both suggests the diagnosis of the popliteal pterygium syndrome.

Authors

Khan SN
No affiliation info available
Hufnagle KG
No affiliation info available
Pool R
No affiliation info available

MeSH

Abnormalities, MultipleAdultCleft LipCleft PalateFemaleHumansInfant, NewbornMaleNails, MalformedPedigreeSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3460725

Citation

Khan, S N., et al. "Intrafamilial Variability of Popliteal Pterygium Syndrome: a Family Description." The Cleft Palate Journal, vol. 23, no. 3, 1986, pp. 233-6.
Khan SN, Hufnagle KG, Pool R. Intrafamilial variability of popliteal pterygium syndrome: a family description. Cleft Palate J. 1986;23(3):233-6.
Khan, S. N., Hufnagle, K. G., & Pool, R. (1986). Intrafamilial variability of popliteal pterygium syndrome: a family description. The Cleft Palate Journal, 23(3), 233-6.
Khan SN, Hufnagle KG, Pool R. Intrafamilial Variability of Popliteal Pterygium Syndrome: a Family Description. Cleft Palate J. 1986;23(3):233-6. PubMed PMID: 3460725.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Intrafamilial variability of popliteal pterygium syndrome: a family description. AU - Khan,S N, AU - Hufnagle,K G, AU - Pool,R, PY - 1986/7/1/pubmed PY - 1986/7/1/medline PY - 1986/7/1/entrez SP - 233 EP - 6 JF - The Cleft palate journal JO - Cleft Palate J VL - 23 IS - 3 N2 - Popliteal pterygium syndrome is one of the autosomal dominant limb pterygium syndromes. It has incomplete penetrance and extreme phenotypic variability that leads to difficulty in diagnosis. A case is presented to emphasize the variable phenotype of this disorder. The absence of pterygia in the family members led to the misdiagnosis of van der Woude's syndrome. However, the presence of a pyramidal fold of skin over the nail of the hallux in family members suggested the diagnosis of popliteal pterygium syndrome. It is concluded that the presence of this distinctive nail abnormality in infants with cleft lip, cleft palate or both suggests the diagnosis of the popliteal pterygium syndrome. SN - 0009-8701 UR - https://www.unboundmedicine.com/medline/citation/3460725/Intrafamilial_variability_of_popliteal_pterygium_syndrome:_a_family_description_ DB - PRIME DP - Unbound Medicine ER -