✦ LIBER ✦

Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: A new autosomal recessive syndrome?

✍ Scribed by Moog, U.; Bleeker-Wagemakers, E.M.; Crobach, P.; Vles, J.S.H.; Schrander-Stumpel, C.T.R.M.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 22 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980707)78:3<263::aid-ajmg11>3.0.co;2-d

No coin nor oath required. For personal study only.

✦ Synopsis

The Axenfeld-Rieger anomaly is a defect of the anterior chamber of the eye affecting the angle structures. If accompanied by hypodontia, midface hypoplasia, and umbilical anomalies, the designation ''Rieger syndrome'' is appropriate. Both conditions are autosomal dominant traits. The Axenfeld-Rieger anomaly is also known to occur in a variety of other syndromes. We report on two sisters, born to consanguineous parents, who presented with Axenfeld-Rieger anomaly, hydrocephalus, leptomeningeal calcifications, and mild mental retardation. Their height was on and just below the 3rd centile, respectively. One of them suffered from epilepsy and the other from sensorineural hearing loss. Two of their brothers died at young ages of hydrocephalus and possibly had intracranial calcifications as well. The differential diagnosis is discussed. Of the known syndromes associated with Axenfeld-Rieger anomaly, none could be convincingly applied to the propositae. Possibly, they represent a previously unreported autosomal recessive syndrome. Am.

📜 SIMILAR VOLUMES

New autosomal recessive syndrome of seve

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects

✍ Duval, Alex; Boute, Odile; Devisme, Louise; Valat, Anne S.; Manouvrier, Sylvie 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 1 views

We describe two female fetuses conceived by a nonconsanguineous couple. The pregnancies were interrupted at 31 and 26 weeks of gestation, respectively, because of severe microcephaly. Postmortem X-ray and autopsy studies showed in both fetuses: 1) severe intrauterine growth retardation; 2) facial an

Thomas syndrome: Clinical variability an

Thomas syndrome: Clinical variability and autosomal recessive inheritance

✍ Briscioli, Vincenza; Lalatta, Faustina; Rizzuti, Tommaso; Fesslová, Vlasta 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 1 views

The paper by prompted us to report the case of a family in which three children from a consanguineous marriage were affected by Thomas syndrome (Potter sequence with cleft lip/palate and cardiac anomalies). The parents were an Egyptian consanguineous couple who had had 3 pregnancies. The first pre

Adams-Oliver syndrome: Autosomal recessi

Adams-Oliver syndrome: Autosomal recessive inheritance and new phenotypic-anthropometric findings

✍ Klinger, Gil; Merlob, Paul 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views

We describe a new family with Adams-Oliver syndrome. One sib had scalp aplasia cutis congenita (SACC) and cutis marmorata and a second sib had SACC, cutis marmorata, and terminal lower limb defects. In both the findings were associated with oligohydramnios. The pedigree suggests autosomal recessive

Shprintzen-Goldberg syndrome with osteop

Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus

✍ Hassed, Susan; Shewmake, Kris; Teo, Charles; Curtis, Mary; Cunniff, Christopher 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

These manifestations should be included in the diagnosis and anticipatory guidance of children with SGS. Am.

Two new cases of Cumming syndrome confir

Two new cases of Cumming syndrome confirming autosomal recessive inheritance

✍ P�rez del R�o, M.J.; Fern�ndez-Toral, J.; Madrigal, B.; Gonz�lez-Gonz�lez, M.; A 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 1 views

to that first described by Cumming et al. [

SHORT syndrome: A new case with probable

SHORT syndrome: A new case with probable autosomal dominant inheritance

✍ Sorge, Giovanni; Ruggieri, Martino; Polizzi, Agata; Scuderi, Antonino; Di Pietro 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB

A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed