Gerodermia osteodysplastica in a Bedouin sibship

Al‐Torki, N.A.; CINDRO-HEBERIE, L.; Sabry, Mohamed

doi:10.1097/00019605-199701000-00009

Cited by 13 publications

(17 citation statements)

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“…The GO-associated osteopenia was severe enough to result in frequent fractures, bowing of long bones, and compression fractures of vertebrae. Wide interfamilial variability was observed in our GO families which may reflect genetic heterogeneity as already observed by others [Lisker et al, 1979;al-Torki et al, 1997]. Hypotelorism, long narrow face with long jaw, mental retardation, and camptodactyly observed in families A and D are very similar to the family described by Al-Gazali et al, [2001].…”

Section: Discussionsupporting

confidence: 89%

“…The patients with a gestalt as described by Bamatter et al (droopy face, maxillary hypoplasia, mandibular prognathism and mild wrinkling restricted to distal limbs and abdomen in sitting position) were grouped as GO [Bamatter et al, 1950;Hunter et al, 1978;Hall, 1983;al-Torki et al, 1997]. The remaining patients with more prominent and generalized skin wrinkling, large persistent fontanelle and absence of classical facial features of GO were grouped as WSS.…”

Section: Methodsmentioning

confidence: 99%

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Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Rajab

Kornak

Budde

et al. 2008

American J of Med Genetics Pt A

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Excessive skin wrinkling and cutis laxa are seen in many genetic conditions and overlapping features can make a clinical diagnosis difficult. Here we report on 22 Omani patients from 11 consanguineous families with the diagnosis of wrinkly skin syndrome (WSS, OMIM 278250) or geroderma osteodysplasticum hereditaria (GO, OMIM 231070). The WSS phenotype evolves during early childhood and includes a generalized and excessive skin wrinkling, dental problems, herniae, foot deformities, hip dislocations, growth retardation, and a large anterior fontanelle. The facial gestalt is characterized by a broad nasal bridge, hypertelorism, and downslanting palpebral fissures. We were unable to differentiate between WSS and cutis laxa with growth and developmental delay (CLGDD, OMIM 219200) suggesting that both can be considered as one entity. Distinct hallmarks of GO were skin wrinkling limited to the dorsum of hands and feet and to the abdomen, normal fontanelles, maxillary hypoplasia, bowed long bones, and osteopenia with frequent fractures. In contrast to the attenuation of the skin phenotype with age in WSS, adult patients with GO appeared prematurely aged. A serum sialotransferrin type 2 pattern was found in all four WSS patients tested. Apolipoprotein CIII (a marker for O-glycosylation) was normal suggesting that WSS is frequently associated with a N-protein glycosylation defect, probably at the level of processing (CDG-II). All four investigated GO patients showed normal sialotransferrin patterns. The known loci for cutis laxa and WSS on 2q31, 5q23-q31, 7q11, 11q13, and 14q32 were excluded. We suggest that WSS and GO are distinct entities with overlapping features.

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Section: Discussionsupporting

confidence: 89%

Section: Methodsmentioning

confidence: 99%

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Rajab

Kornak

Budde

et al. 2008

American J of Med Genetics Pt A

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“…Increased arm span/height ratio and decreased upper/lower body segment has been described in several GO patients and could be caused by vertebral body collapse (Hunter et al, 1978;Al-Torki et al, 1997). Failure to thrive has been described in at least two individuals with GO (Fitzsimmons et al, 1985;Azuri et al, 1999).…”

Section: Growth and Developmentmentioning

confidence: 99%

“…Prominent veins may appear on the trunk and limbs of infants but not in older individuals and this has been considered a key feature for differentiating CLGDD and WSS from GO, although Al-Torki et al(1997) reported prominent veins in some families with GO.…”

Section: Dermatologic Aspectsmentioning

confidence: 99%

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

2005

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Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow-up revealed that the clinical picture was compatible with the diagnosis of cutis laxa with growth and developmental delay (CLGDD), gerodermia osteodysplastica (GO) and wrinkly-skin syndrome (WWS). It has recently been suggested that cutis laxa with growth and developmental delay, gerodermia osteodysplastica and wrinkly skin syndrome are the same condition. A review concerning this diagnosis is also presented.

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“…It is characterized by an aged appearance with droopy eyelids, prominent forehead, and underdeveloped maxillary and malar bones. The skin is lax and wrinkled, especially on the extremities, and patients exhibit various musculoskeletal abnormalities including arm span greater than height, kyphoscoliosis, hyperextensible joints, osteoporosis, and hypotonia [3,4]. GO is reported primarily in countries of the Middle East, where most patients have consanguineous parents [2].…”

Section: Introductionmentioning

confidence: 99%

A Case of Gerodermia Osteodysplastica Diagnosed by Recurrent Pathologic Fractures

Almalki

Alshahrani

2014

J Endocrinol Metab

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Gerodermia osteodysplastica in a Bedouin sibship

Cited by 13 publications

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Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

A Case of Gerodermia Osteodysplastica Diagnosed by Recurrent Pathologic Fractures

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