✦ LIBER ✦

Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: A new syndrome?

✍ Scribed by Al-Ghamdi, Mohammad A.; Polomeno, Robert C.; Chitayat, David; Azouz, E. Michel; Teebi, Ahmad S.

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(19970905)71:4<401::aid-ajmg6>3.0.co;2-w

No coin nor oath required. For personal study only.

✦ Synopsis

We report on an 8-year-old boy with clinical manifestations suggestive of a new arthrogryposis syndrome. These included characteristic craniofacial abnormalities, cleft palate, arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings. There was no intrauterine growth retardation or decreased fetal movements. Despite the poor prognosis expected in early life, the patient presented with normal mental capability on follow-up. Family data showed that a maternal first cousin of the mother (mother's brother's son) had similar findings and died in infancy. Differential diagnosis included Pena-Shokeir syndrome or phenotype, Gordon syndrome, Marden-Walker syndrome, and the syndrome of arthrogryposis with ophthalmoplegia and retinopathy. The possibility of autosomal dominant inheritance with reduced penetrance is suggested for this apparently new syndrome.

📜 SIMILAR VOLUMES

Earliest evidence for arthrogryposis mul

Earliest evidence for arthrogryposis multiplex congenita or larsen syndrome?

✍ Anderson, T. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 2 views

A sixteenth-century illustrated pamphlet from Great Britain suggests that documentary evidence may permit accurate diagnosis of pathological conditions in earlier societies. The document is of particular importance, since the presented congenital abnormalities, including cleft lip, spina bifida cyst

Multiple schwannomas, multiple nevi, and

Multiple schwannomas, multiple nevi, and multiple vaginal leiomyomas: A new dominant syndrome

✍ Gorlin, Robert J.; Koutlas, Ioannis G. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 1 views

We report on a family of seven affected with a new syndrome of multiple deep schwannomas, multiple nevi (both intradermal and compound types), and multiple leiomyomas of the vagina. Inheritance is dominant, whether autosomal or X-linked cannot be determined at this time. The nevi, which are congenit

Severe craniofacial malformations and de

Severe craniofacial malformations and deglutition dysfunction in a brother and sister: New syndrome?

✍ �rstavik, Karen Helene; Tangsrud, Svein Erik; Nordshus, Tore; Lange, Johan Emil; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 2 views

We report seemingly unique craniofacial malformations and deglutition dysfunction in a sib pair. The boy had right maxillomandibular alveolar synechae, ankylosis of right temporomandibular joint, hypoplasia of the zygomatico-maxillary region, nasal deviation to the left, choanal stenosis, and exopht

Craniofacial variability index: A simple

Craniofacial variability index: A simple measure of normal and abnormal variation in the head and face

✍ Ward, Richard E.; Jamison, Paul L.; Farkas, Leslie G. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB 👁 1 views

We propose a numerical means of increasing the objectivity of describing, characterizing, and evaluating craniofacial morphology, including dysmorphology. A craniofacial variability index (CVI) can be created for an individual by obtaining a series of anthropometric measurements of the head and face

Craniofacial dyssynostosis with cryptorc

Craniofacial dyssynostosis with cryptorchidism and normal stature

✍ Al-Torki, N.A.; Sabry, M.A.; Al-Tawari, A.; Al-Kandari, N.H.; Al-Awadi, S.A. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 1 views

We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and agenesis of the corpus callosum. This report reemphasises the previously reported traits of craniofacial dysost o s i s s y n d r o m e a n d s u g g e s t s t h

Radioulnar synostosis, radial ray abnorm

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?

✍ Manouvrier, Sylvie; Moerman, Alexandre; Coeslier, Anne; Devisme, L.; Boute, Odil 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, u