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Femoral-facial syndrome in an infant of a diabetic mother.

ABSTRACT: Femoral-facial syndrome (FFS) is a very rare multiple congenital anomaly syndrome. The authors describe a case of FFS in a 2-day-old infant of a diabetic mother. The phenotypic features include bilateral symmetrical femoral involvement with completely aplastic right-sided femur, severely hypoplastic left femur and unusual facial dysmorphic features without other skeleton/spinal and genitourinary anomalies. Cases of FFS need to be carefully evaluated because of the similarity between FFS and caudal dysgenesis, a condition frequently related to maternal diabetes and with other syndromes characterised by femoral hypoplasia and associated anomalies, which can pose a diagnostic challenge.

SUBMITTER: Ahmed S

PROVIDER: S-EPMC4493187 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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Femoral-facial syndrome in an infant of a diabetic mother.

Ahmed Saleem S Alsaedi Saad Abdullah SA Al-Wassia Heidi H Al-Aama Jumana Yousef JY

BMJ case reports 20150706

Femoral-facial syndrome (FFS) is a very rare multiple congenital anomaly syndrome. The authors describe a case of FFS in a 2-day-old infant of a diabetic mother. The phenotypic features include bilateral symmetrical femoral involvement with completely aplastic right-sided femur, severely hypoplastic left femur and unusual facial dysmorphic features without other skeleton/spinal and genitourinary anomalies. Cases of FFS need to be carefully evaluated because of the similarity between FFS and caud ...[more]

PMID: 26150620

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