✦ LIBER ✦

Severe acro-renal-uterine-mandibular syndrome

✍ Scribed by Evans, Jane A. ;Phillips, Susan ;Reed, Martin ;Chodirker, Bernard N.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 459 KB
Volume: 93
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20000703)93:1<67::aid-ajmg11>3.0.co;2-k

No coin nor oath required. For personal study only.

✦ Synopsis

Although limb and renal defects occur together in a variety of patterns of multiple malformations, familial cases of acro-renal disorders are rare. In 1980, Halal et al. [Am J Med Genet 5:277-284] described two sisters with unusual limb deficiencies, renal anomalies, and mandibular hypoplasia and termed this condition acro-renalmandibular syndrome. A girl reported earlier by Fitch and Lachance [1972; Can Med Assoc J 107:653-656] had similarly limb and renal findings, but an apparently normal jaw. We document three sibs with unusual limb deficiencies, renal agenesis, uterine anomalies in the two females, and orofacial defects, who clearly have a similar but more severe type of acrorenal disorder, apparently inherited as an autosomal recessive condition. The sibs with limb deficiencies and renal agenesis reported by Hennekam et al. [

📜 SIMILAR VOLUMES

Acro-renal-mandibular syndrome

✍ Halal, Fahed ;Desgranges, Marie-Françoise ;Leduc, Bernard ;Thêorét, Gilles ;Bett 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 477 KB

Further delineation of the acro-renal-oc

Further delineation of the acro-renal-ocular syndrome

✍ Aalfs, Cora M.; van Schooneveld, Mary J.; van Keulen, Estéban M.; Hennekam, Raou 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 3 views

A triad of acral, renal, and ocular abnormalities was reported previously in four families. W e report on a fifth family, in which a mother, one of her four sons and one of her two daughters are affected. Major findings in the acro-renal-ocular syndrome are upper limb abnormalities, mainly thumb hyp

Acro-renal-ocular syndrome: Autosomal do

Acro-renal-ocular syndrome: Autosomal dominant thumb hypoplasia, renal ectopia, and eye defect

✍ Halal, Fahed ;Homsy, Magda ;Perreault, Giiles 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 481 KB 👁 2 views

SALL4 mutations in Okihiro syndrome (Dua

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders

✍ Jürgen Kohlhase; David Chitayat; Dieter Kotzot; Serdar Ceylaner; Ursula G. Frost 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB

Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result

Severe micrognathia, cleft palate, absen

Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: Cerebro-costo-mandibular syndrome or a new syndrome?

✍ Kirk, Edwin P.E.; Arbuckle, Susan; Ramm, Phillip L.; Ad�s, Lesley C. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. Autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a Ushaped d

A case of Perlman syndrome: Fetal gigant

A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits

✍ Schilke, Kathrin; Schaefer, Franz; Waldherr, R�diger; Rohrschneider, Wiltrud; Jo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 56 KB 👁 2 views

We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe