✦ LIBER ✦

Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form

✍ Scribed by Titomanlio, L.; Casa, R. Della; Lecora, M.; Farina, V.; Sebastio, G.; Andria, G.; Parenti, G.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 16 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990903)86:1<82::aid-ajmg16>3.0.co;2-o

No coin nor oath required. For personal study only.

✦ Synopsis

Geleophysic dysplasia (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, joint contractures, and a good-natured facial appearance. Infiltration of liver and cardiac leaflets has been reported in some patients. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, tracheal mucosa, chondrocytes, and skin fibroblasts, the underlying cause of the conditions is considered to be a generalized lysosomal storage defect. We report on a new case born to consanguineous parents, first observed at age 8 months, and for whom a 7-year follow-up is available. Am. J.

📜 SIMILAR VOLUMES

Patients with geleophysic dysplasia are

Patients with geleophysic dysplasia are not always geleophysic

✍ Santolaya, Jose M.; Groninga, Lori C.; Delgado, Alfonso; Monasterio, Jose L.; Ca 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 1 views

We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible with a diagnosis of geleophysic dysplasia (GD). One of them also had fibrosis and fatty degeneration of the liver. In bot

28-year follow-up of the craniofacial fi

28-year follow-up of the craniofacial findings in a patient with craniometaphyseal dysplasia

✍ Feingold, Murray 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views

Follow-up of an adult with Keutel syndro

Follow-up of an adult with Keutel syndrome

✍ Devriendt, Koen; Holvoet, Maureen; Fryns, Jean-Pierre 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 1 views

The Keutel syndrome (MIM 245150) is a rare autosomal recessive disorder, with only 13 patients reported thus far [reviewed by Teebi et al., 1998]. The recent identification of mutations in the calciumbinding matrix Gla protein in individuals with the Keutel syndrome has shed new light on the pathoge

Zimmermann-Laband syndrome in an adult.

Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications

✍ Robertson, Stephen P.; Lipp, Harry; Bankier, Agnes 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 1 views

Zimmermann-Laband syndrome (ZLS) is characterised by findings of coarse facial appearance, hepatosplenomegaly, and hirsutism often first observed in infancy, followed by the evolution during childhood of gingival fibromatosis, small joint hyperextensibility, and hypoplasia of the finger-and toenails

Craniofrontonasal syndrome: Study of 41

Craniofrontonasal syndrome: Study of 41 patients

✍ Saavedra, Dolores; Richieri-Costa, Antonio; Guion-Almeida, Maria Leine; Cohen, M 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB

Of 41 patients with craniofrontonasal syndrome, 35 were female and 6 were male. Although most cases were sporadic, 7 familial instances were found. Craniofrontonasal syndrome represents a unique, incompletely understood X-linked disorder. Unusual manifestations in females included thick, wiry, and c

Esophageal atresia with distal tracheoes

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia

✍ Franceschini, P.; Guala, A.; Licata, D.; Franceschini, D.; Signorile, F.; Di Car 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 1 views

Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a pa