✦ LIBER ✦

A case of ornithine transcarbamylase deficiency with rett syndrome manifestations

✍ Scribed by Hyman, Susan L. ;Batshaw, Mark L. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1986
Tongue: English
Weight: 285 KB
Volume: 25
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320250534

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genotype spectrum of ornithine transcarb

Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with the clinical and biochemical phenotype

✍ McCullough, Beth A. ;Yudkoff, Marc ;Batshaw, Mark L. ;Wilson, James M. ;Raper, S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 205 KB 👁 2 views

A case of Kabuki (Niikawa-Kuroki) syndro

A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome

✍ David, Grace ;Sillence, David ;Hardwick, Robert ;Opitz, John M. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB 👁 1 views

## Abstract We report a 2‐year‐old boy with overlapping manifestations of the Kabuki (Niikawa–Kuroki) and Opitz trigonocephaly syndromes. The proband was initially diagnosed with Opitz trigonocephaly syndrome on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palat

Clinical and biochemical heterogeneity i

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

✍ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 395 KB 👁 2 views

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo

Expansion of the phenotype in Hennekam s

Expansion of the phenotype in Hennekam syndrome: A case with new manifestations

✍ Angle, Brad; Hersh, Joseph H. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congen

Case of partial trisomy 2q3 with clinica

Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome

✍ Seidahmed, M. Zein; Rooney, D.E.; Salih, M.A.M.; Basit, O. Bashir Abdel; Shaheed 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified

Identification and molecular characteriz

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations

✍ Delobel, Bruno; Delannoy, Val�rie; Pini, Giorgio; Zapella, Michele; Tardieu, Mar 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB 👁 1 views

We report on an interstitial duplication of the long arm of chromosome 11 [46,XX,dup(11) (q23.3)] in a girl with atypical Rett syndrome (RS). This case was discovered during a systematic cytogenetic study of RS. Fluorescent in situ hybridization including total chromosome painting and use of regiona