Gerodermia osteodysplastica: Report on two patients and surgical correction of facial deformity

Lustmann, J.; Nahlieli, Oded; Harary, D; Casap, Nardy; Neder, A.; Zlotogora, Joël

doi:10.1002/ajmg.1320470224

Cited by 16 publications

(19 citation statements)

References 7 publications

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“…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]. The phenotype in family B was different with relative prognathism and shortening of the maxilla in adults resembling other descriptions of GO in the literature [Hunter et al, 1978;Lustmann et al, 1993].…”

Section: Discussionsupporting

confidence: 74%

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: 74%

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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“…An enlarged mandibular lingula in the shape of a wide funnel was reported in two sibs with GO by Lustmann et al (1993) who described this as a very unusual finding.…”

Section: Anomalies Detected By Radiological Examination and Imagingmentioning

confidence: 82%

“…5) The family described by Bamatter et al (1950) was reviewed several times and a very detailed description of the five affected members was published by Boreux (1969). 6) Lustmann et al (1993) cited other two affected sibs. 7) A male relative of the girls described by Al-Torki et al (1997) was described as having a similar phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…The latter may become more pronounced with age (Al-Gazali et al, 2001). The malar-maxillary hypoplasia associated with mandibular prognathism can lead to important cosmetic and functional oral problems requiring surgical intervention (Lustmann et al, 1993).…”

Section: Craniofacial Abnormalitiesmentioning

confidence: 99%

“…Odontological findings include incomplete primary dentition, discolored and carious teeth (Patton et al, 1987), unerupted molars (George et al, 1998), malocclusion, crossbite, dental crowding and diminished height of the alveolar bone (Lustmann et al, 1993).…”

Section: Craniofacial Abnormalitiesmentioning

confidence: 99%

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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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Metaphyseal peg in geroderma osteodysplasticum: A new genetic bone marker and a specific finding?

et al. 1996

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We describe two sibs with geroderma osteodysplasticum (GO) who, in addition to the known clinical and radiologic manifestations of the disorder, presented a metaphyseal peg indenting the epiphysis of the long bones, particularly at the knees. The peg was visible only at the age of 4 to 5 years but was invisible in infancy and following physeal closure. This may explain why this anomaly was not described in previous reports of 23 patients in 11 families with GO. The metaphyseal peg is an abnormality of bone development so far unknown to us. We speculate that it represents a primary, age‐dependent alteration of bone shape and hence a new genetic bone marker apparently specific to GO. © 1996 Wiley‐Liss, Inc.

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Gerodermia osteodysplastica: Report on two patients and surgical correction of facial deformity

Cited by 16 publications

References 7 publications

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

Metaphyseal peg in geroderma osteodysplasticum: A new genetic bone marker and a specific finding?

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