title: Congenital constriction ring of limbs in subjects with history of maternal substance use.
abstract: Congenital Constriction Ring (CCR) is a rare malformation which manifests itself in the form of ring-like constrictive bands. Due to its heterogeneous nature, its etiology remains unclear. Here, we present a series of seven independent individuals afflicted with CCR, which primarily involved the digits. The phenotypic manifestations included terminal phalangeal reduction, anonychia, digit hypoplasia, and acrosyndactyly. Mesoaxial digits in hands and preaxial digits in feet were most frequently affected. Camptodactyly and clubfoot were witnessed in four and one subject, respectively. Curiously, mothers of six of these subjects revealed that they consumed copious amounts of Multani mitti(Fuller's clay) and/or Naswar(nonsmoke-tobacco), during their respective pregnancies. Maternal substance use during pregnancy is not an unusual practice, however, its relationship with CCR as pregnancy outcome remains unexplored. Case-control studies are warranted to elucidate the relationship between the exposure to these substances and the etiology of CCR and/or other limb defects in the offspring.
authors.affiliation: Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad.
authors.forename: Sajid
authors.initials: S
authors.lastname: Malik
authors.affiliation: Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad.
authors.forename: Karmoon
authors.initials: K
authors.lastname: Lal
authors.affiliation: Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad.
authors.forename: Noreen Ghulam
authors.initials: NG
authors.lastname: Fatima
authors.affiliation: Department of Physiology, University of Sindh, Jamshoro.
authors.forename: Ayaz
authors.initials: A
authors.lastname: Samo
authors.affiliation: Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad.
authors.forename: Sayedul
authors.initials: S
authors.lastname: Haque
mesh_terms: D000652:Amniotic Band Syndrome; D002675:Child, Preschool; D003251:Constriction, Pathologic / Q000151:congenital*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010154:Pakistan; D010641:Phenotype; D011247:Pregnancy; D012189:Retrospective Studies; D019966:Substance-Related Disorders / Q000150:complications*; D014034:Toes / Q000002:abnormalities*