✦ LIBER ✦

Two sibs with Malpuech syndrome

✍ Scribed by Crisponi, Giangiorgio; Marras, Andrea Raffaele; Corrias, Adriano

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 42 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990917)86:3<294::aid-ajmg20>3.0.co;2-2

No coin nor oath required. For personal study only.

✦ Synopsis

We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.

📜 SIMILAR VOLUMES

Karsch-Neugebauer syndrome in two sibs w

Karsch-Neugebauer syndrome in two sibs with unaffected parents

✍ Wong, S.C. ;Cobben, J.M. ;Hiemstra, S. ;Robinson, P.H. ;Heeg, M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

We report on 2 sisters with Karsch-Neugebauer syndrome comprising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder. Although genetic heterogeneity can not be formal

Two sisters with Toriello-Carey syndrome

✍ Chinen, Yasutsugu; Tohma, Takaya; Izumikawa, Yoshinori; Taketomi, Hirohisa; Iha, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia. We describe two Japanese sisters with a Toriello-Carey syndrome whose phenotypes were as

Sibs with Ritscher-Schinzel (3C) syndrom

Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations

✍ �rstavik, Karen Helene; Bechensteen, Anne Grethe; Fugelseth, Drude; Orderud, Wen 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

## Ritscher -Schinzel syndrome (craniocerebello-cardiac syndrome, 3C syndrome) is a recently delineated disorder with Dandy-Walker malformation, congenital heart defects, and characteristic face. Various other defects, including eye and kidney malformations, have been described in the few patients

Cervical ribs in fetuses with Ullrich-Tu

Cervical ribs in fetuses with Ullrich-Turner syndrome

✍ Kjær, Inger; Hansen, Birgit Fischer 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views

The purpose of this study was to analyze the cervical skeleton in fetuses with Ullrich-Turner syndrome (45,X) in a search for skeletal characteristics in the neck region affected by hygroma. In connection with requested autopsies, 9 second trimester human fetuses were investigated radiographically b

Infantile spasms in two children with Wi

Infantile spasms in two children with Williams syndrome

✍ Tsao, Chang Y.; Westman, Judith A. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 1 views

We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhyt

Report of two sibs with Knobloch syndrom

Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies

✍ Wilson, Callum; Aftimos, Salim; Pereira, Alison; McKay, Ross 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB

We report on two sibs with high myopia, vitreoretinal degeneration (VRD), and occipital encephalocoele or scalp lesion. We review the literature on Knobloch syndrome, discuss possible causes, and suggest a possible involvement of mesoderm in the morphogenesis. One case presents with very early onset