✦ LIBER ✦

New findings in a patient with dubowitz syndrome: Velopharyngeal insufficiency and hypoparathyroidism

✍ Scribed by Lerman-Sagie, Tally ;Merlob, Paul ;Shuper, Avinoam ;Kauli, Rivka ;Kozokaro, Zilli ;Grunebaum, Michael ;Mimouni, Marc

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 267 KB
Volume: 37
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320370215

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Klippel-Feil anomaly in a boy and Dubowi

Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome?

✍ Shoko Takahira; Tatsuro Kondoh; Muneichiro Sumi; Masato Tagawa; Masayuki Obatake 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 1 views

Neu–Laxova syndrome: A new patient with

Neu–Laxova syndrome: A new patient with detailed antenatal and post-natal findings

✍ Al-Lawama Manar; Basha Asma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 171 KB 👁 2 views

Novel findings in a patient with Weaver

Novel findings in a patient with Weaver or a Weaver-like syndrome

✍ Scarano, Gioacchino; Monica, Matteo Della; Lonardo, Fortunato; Neri, Giovanni 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB 👁 1 views

W e report on a young male patient with an overgrowth syndrome, who had normal birth weight. He had a number of manifestations typical of the Weaver syndrome (WS), such as advanced bone age, peculiar craniofacial appearance, and camptodactyly. He also showed severe mental and speech retardation and

Methylenetetrahydrofolate reductase defi

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome

✍ Arn, Pamela H.; Williams, Charles A.; Zori, Roberto T.; Driscoll, Daniel J.; Ros 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views

Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who

A new chromosome anomaly in a patient wi

A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndrome

✍ Robert P. Erickson 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

Congenital hypoplastic anaemia in a pati

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

✍ Mori, Pier Giorgio; Priolo, Manuela; Lerone, Margherita; Pasino, Mirella; Caroli 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna