Cutis laxa

George, .; Jacob, .; Pulimood,; Chandi,

doi:10.1046/j.1365-2230.1998.00355.x

Cited by 18 publications

(11 citation statements)

References 4 publications

(3 reference statements)

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“…In the report of George et al (1998) on two sisters with CLGDD, both presented pulmonary emphysema and one exhibited bilateral sensory neural deafness, which could be coincidental findings due to parental consanguinity. Kreuz and Wittwer (1993) found a 2q32 interstitial deletion in a mother and two sons described as having WSS, this report being atypical not only in respect to the chromosomal findings but also because there were three affected individuals in two generations which suggests autosomal dominant inheritance.…”

Section: Rare Anomaliesmentioning

confidence: 95%

“…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%

“…There were inconstant reports in the literature of the following anomalies: dystrophic nails (Patton et al, 1987); hypoplastic nipples (Sakati et al, 1983;Ogur et al, 1990); cleft lip (Patton et al, 1987); bilateral coloboma of the macula (George et al, 1998); microcornea; arcus senilis; pseudo epiphyses of the second metacarpal bones (Lisker et al, 1979); and unilateral absence of the pisiform bone (Boreux, 1969).…”

Section: Rare Anomaliesmentioning

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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Section: Rare Anomaliesmentioning

confidence: 95%

Section: Craniofacial Abnormalitiesmentioning

confidence: 99%

Section: Rare Anomaliesmentioning

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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“…Also known as generalized elastolysis or dermatochalasia, cutis laxa is characterized by progressive generalized loss of skin elasticity with skin looseness. 54 Cutis laxa may be acquired or inherited as an AD, AR, or X-linked disorder. There are 3 distinct types of cutis laxa, with cardiac involvement in types I and III.…”

Section: Inherited Cutaneous Disorders Associated With Cardiovascularmentioning

confidence: 99%

“…Diagnosis of cutis laxa is based on the clinical findings; elastin staining of histopathologic specimens reveals fragmentation or paucity of dermal elastic fibers. 54 Inborn errors of metabolism. Homocystinuria.…”

Section: Inherited Cutaneous Disorders Associated With Cardiovascularmentioning

confidence: 99%