title: Preaxial hallucal polydactyly as a marker for diabetic embryopathy.
abstract: BACKGROUND
  Diabetes is the most common endocrinologic complication during pregnancy, and poor control can lead to a variety of congenital anomalies in the fetus. However, it is often difficult to differentiate between diabetes-related anomalies and an underlying genetic syndrome. In the 1990s it was proposed that preaxial hallucal polydactyly, particularly when proximally placed, was a distinguishing feature of diabetic embryopathy.
  
  
  METHODS
  We summarize the clinical findings in 18 patients (five previously reported in abstract form) with diabetic embryopathy and preaxial hallucal polydactyly to determine which features are most suggestive of diabetic embryopathy.
  
  
  RESULTS
  All 18 patients had preaxial hallucal polydactyly (seven bilateral, 11 unilateral), of which 15 patients had proximal implantation of the extra hallux. Further skeletal findings included the following: segmentation anomalies of the spine, equinovarus deformity of the feet, tibial hemimelia, hip dysplasia, and femoral hypoplasia. Upper limb malformations were rare. Eleven of the 18 mothers had prepregnancy insulin-dependent diabetes, while one mother had prepregnancy type 2 diabetes that required insulin therapy in the 3(rd) trimester. Five mothers had gestational diabetes that required insulin and one mother had gestational diabetes that was controlled by diet. The majority of mothers had poorly controlled diabetes during the pregnancy.
  
  
  CONCLUSIONS
  Proximally placed preaxial hallucal polydactyly, particularly when coupled with segmentation anomalies of the spine and tibial hemimelia, is highly suggestive of diabetic embryopathy. Varying degrees of diabetes in the mothers point to a possible genetic predisposition interacting with the teratogenic effects of poor glycemic control leading to specific limb anomalies.
authors.affiliation: Emory University School of Medicine, Atlanta, Georgia 30033, USA. madam@genetics.emory.edu
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.forename: Bryan D
authors.initials: BD
authors.lastname: Hall
authors.forename: Karlene
authors.initials: K
authors.lastname: Coleman
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Antonio
authors.initials: A
authors.lastname: Perez-Aytes
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
mesh_terms: D000015:Abnormalities, Multiple; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D016640:Diabetes, Gestational; D005260:Female; D005269:Femur / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D006214:Hallux / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D017689:Polydactyly; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D013977:Tibia / Q000002:abnormalities