A Hereditable Combination of Congenital Anomalies

Abstract

A kindred of seven affected individuals in three generations is described with autosomal dominant inheritance of bilateral five-fingered hands, pedal polydactyly with syndactyly and agenesis of the tibia and of the lower end of the radius.

Tibial hemimelia–polydactyly–five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS)

“…Tibial hemimelia-preaxial polydactyly-triphalangeal thumb syndrome is a distinct anomaly complex, and several familial cases have been reported [2,3]. In 2010, two families with this complex were reported to harbor two different specific mutations at the same nucleotide located at the ZRS, about 1 Mb apart from the SHH gene, which is expressionally regulated by ZRS [11].…”

Prevalence of Hypomagnesemia and Hypocalcemia on Day one and Day Four in Neonates Born in A Tertiary Care Hospital of Western Maharashtra

“…Healthy term infants undergo a physiological nadir in the serum calcium levels by 24 to 48 hours of age. 15 In our study, the mean concentration of serum calcium and serum ionic calcium on day 1 and day 4 of life for all the 400 neonates who were studied was compared. The results showed decrease in the calcium levels on day 4 of life in comparison with levels of calcium on day 1 of life.…”

Paediatric Orthopaedic Diagnosis

“…Three classes of syndromes are associated with polydactyly: those with limb anomalies warranting major orthopedic intervention apart Nature of orthopedic intervention likely to be needed Fuhrmann et al ( 1980 ) Polysyndactyly Hypoplasia of the fi bula and pelvis, bowing of the femur Correction of femoral bowing, correction of foot and ankle deformities that may occur with fi bular hypoplasia Ellis-van Creveld syndrome (Goldblatt et al 1992 ) Postaxial polydactyly Sparse hair, abnormal nails and teeth, and congenital cardiac anomalies Correction of genu valgum that develops later on in childhood in many children with this syndrome (the cardiac anomaly would need attention much earlier) Lamb et al ( 1983 ) Preaxial polydactyly Five-fi ngered hand, partial or complete tibial absence Pollicization, correction of problems associated with tibial agenesis Borg et al ( 1999 ) Preaxial mirror polydactyly Unilateral tibial hypoplasia Management of limb length inequality Agarwal et al ( 1996 ) Polysyndactyly Five-fi ngered hand, tibial agenesis, agenesis of the lower end of the radius Pollicization, correction of problems associated with tibial and radial agenesis Laurin-Sandrow syndrome (Sandrow et al 1970 ;Pilkington et al 2000 ) Preaxial mirror polydactyly of feet and hands Ulnar dimelia, fi bular dimelia, agenesis of radius and tibia, nasal abnormality Improving function of the hands and lower limbs Postaxial polydactyly Structural anomalies of the brain, cleft lip and palate, cardiac defects, renal abnormalities, omphalocele, undescended testes in boys, and bicornuate uterus in girls, congenital vertical talus Acrocallosal syndrome (Aykut et al 2008 ) Polydactyly of fi ngers and toes Mental retardation, agenesis of the corpus callosum; Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fi ngers, omphalocele, and inguinal hernia are some other common fi ndings Greig cephalopolysyndactyly (Debeer et al 2007 ) Preaxial or postaxial polysyndactyly Craniofacial abnormalities WAGR (Bremond-Gignac et al 2005 ) Preaxial polydactyly W ilms' tumor, a niridia, g enitourinary abnormalities, and g rowth and mental r etardation ( WAGR ) Lawrence-Moon-Bardet-Biedl syndrome (Castle et al 1993 ;Gershoni-Baruch et al 1992 ) Postaxial or central polydactyly Rod-cone dystrophy with childhood-onset visual loss, truncal obesity, learning disabilities, male hypogenitalism and complex female genitourinary malformations, and renal dysfunction Orofacial digital syndrome (Doss et al 1998 ) Postaxial polydactyly Oral (cleft palate, bifi d tongue), dental, and facial abnormalities, with various associated anomalies of other organs depending on the type (at least 13 types have been described)…”