𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A newly recognized autosomal dominant ectodermal dysplasia syndrome: The Odonto-Tricho-Ungual-Digital-Palmar syndrome

✍ Scribed by Mendoza, Hugo R.; Valiente, María D.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
31 KB
Volume
71
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19970808)71:2<144::aid-ajmg5>3.0.co;2-y

No coin nor oath required. For personal study only.

✦ Synopsis

We report on two brothers, their mother, and 18 other relatives of five generations presenting an apparent newly recognized syndrome involving natal teeth, trichodystrophy, prominent interdigital folds, simian-like hands with transverse palmar creases, and ungual digital dystrophy, inherited as an autosomal dominant trait. In addition, the patients had hypoplasia of the first metacarpal and metatarsal bones and distal phalanges of the toes.

📜 SIMILAR VOLUMES

Autosomal dominant hypohidrotic ectoderm
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family
✍ Aswegan, Andrew L.; Josephson, Kevin D.; Mowbray, Rodney; Pauli, Richard M.; Spr 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 1 views

We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were

Trichorrhexis Nodosa and lip pits in aut
Trichorrhexis Nodosa and lip pits in autosomal dominant ectodermal dysplasia—central nervous system malformation syndrome
✍ Silengo, Margherita; Pietragalla, Anna; Jarre, Laura 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 1 views

A Dandy-Walker-like malformation was observed in a retarded girl who had signs of hidrotic ectodermal dysplasia. This is the third report of the rare triad ectodermal dysplasia-CNS malformation-mental retardation. We observed additional findings, such as submucous cleft palate with lip pits and tric

Andersen syndrome autosomal dominant in
Andersen syndrome autosomal dominant in three generations
✍ Can�n, Sonia; P�rez, Nohem�; Beirana, Luisa G. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 1 views

Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. The recognition of the characteristic face permits an early diagnosis in order to detect the severe sys

Ectodermal abnormalities in Kabuki syndr
Ectodermal abnormalities in Kabuki syndrome
✍ Lerone, Margherita; Priolo, Manuela; Naselli, Arturo; Vignolo, Marina; Romeo, Gi 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 1 views

We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormal

The gene for autosomal dominant hidrotic
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
✍ Radhakrishna, Uppala; Blouin, Jean-Louis; Mehenni, Hamid; Mehta, Timir Y.; Sheth 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 1 views

Hidrotic ectodermal dysplasia (HED), Clouston syndrome (MIM No. 129500), is an autosomal dominant disorder affecting the skin and its derivatives. It is characterized by alopecia, dysplastic nails in hands and feet, and hyperkeratosis of the palms and soles. We have studied a large Indian pedigree (