Clinical Genetics · 1978 · 17 citations · 6 references
Life SciencesGeneticsOrthopedic SurgeryHuman GeneticsMedical GeneticsPediatric GeneticsCongenital DisordersCongenital Musculoskeletal DisordersCongenital Orthopedic DisordersGenetic DisordersGenetic SyndromesDifferential Diagnosis CriteriaFamilial SyndromesRare Bone Diseases
A new case of femoral hypoplasia—unusual facies syndrome is presented, bringing the total number of cases in the literature to seven. A differential diagnosis involving an environmental phenocopy is presented and the etiology of the syndrome is discussed.
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Mahlon V. R. Freeman, Derek W. Williams, R. Neil Schimke et al. · Clinical Genetics · 1974 · 133 citations
Femoral hypoplasia — unusual facies syndrome
Donna L. Daentl, David W. Smith, Charles I. Scott et al. · The Journal of Pediatrics · 1975 · 92 citations
Femoral hypoplasia-unusual facies syndrome
Lewis B. Holmes · The Journal of Pediatrics · 1975 · 29 citations
[The Pierre Robin syndrome: unusual associated developmental defects].
W Holthusen · PubMed · 1972 · 20 citations