Geleophysic Dwarfism—a " Focal " Mucopolysaccharidosis ?

Spranger, J; Gilbert, E. M.; Tuffli, GordonA; Rossiter, FrancisP; Opitz, JohnM.

doi:10.1016/s0140-6736(71)92073-3

Cited by 53 publications

(43 citation statements)

References 6 publications

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“…Renal hypoplasia of patient 1 maybe an unrelated anomaly. The histological and ultrastructural alterations present in our two cases are similar to those previously described by Spranger et al [1971Spranger et al [ , 1984a, Lipson et al [1987], Wraith et al [1990], Shohat et al [1990] and Pontz et al [1996]. Fatty degeneration and hepatic fibrosis found in case 2 have not been described before in GD.…”

Section: Discussionsupporting

confidence: 89%

“…Data compiled in Table I offer a more complete view of the frequency and severity of their clinical manifestations. Of the basic manifestations of GD defined by Spranger et al [1971Spranger et al [ , 1984a, the only ones In Peters et al [1985].…”

Section: Discussionmentioning

confidence: 99%

“…Geleophysic dysplasia (GD) was established as a specific entity by Spranger et al [1971] based on two patients of their own and another published previously by Vanace et al [1960]. They described a storage disorder, characterized by short stature, small hands and feet, a peculiar pleasant facial appearance, hepatomegaly and progressive cardiac valvular disease.…”

Section: Introductionmentioning

confidence: 99%

“…To describe these patients' jovial appearance, Spranger et al [1971Spranger et al [ , 1984a introduced the term geleophysic dysplasia (geleos, happy; physis, nature) which has become the accepted name for this condition.…”

Section: Introductionmentioning

confidence: 99%

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Patients with geleophysic dysplasia are not always geleophysic

et al. 1997

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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 both, the facial appearance was different and neither had short stature nor progressive cardiac valvular disease. These clinical findings, consistent with a mild form of GD, support the notion that this disorder may have a broader spectrum than initially suspected.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Patients with geleophysic dysplasia are not always geleophysic

et al. 1997

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“…This is also the case with geleophysic dwarfism [Spranger et al, 1971;1984al. However, in the latter the facial appearance is different, with a "happy" appearance that seems to be a striking feature.…”

Section: Discussionmentioning

confidence: 75%

Acromicric dysplasia

Maroteaux

Stănescu

et al. 1986

Am. J. Med. Genet.

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We describe a new type of bone dysplasia, the "acromicric dysplasia," based on the study of six patients. This dysplasia is characterized clinically by mild facial anomalies, markedly shortened hands and feet, and growth retardation that is severe in most of cases. Roentgenograms of the hands are characteristic: the metacarpals and the phalanges are short and stubby, the proximal portion of the last four metacarpals are slightly pointed with an external notch on the 2nd metacarpal and an internal notch on the 5th metacarpal, similar to pseudo-epiphysis. The shape of the epiphysis and the metaphysis of the long bones is almost normal, except for a slight deformation of the femoral heads in some patients. No signs of visceral storage were found, which rules out geleophysic dwarfism. The histological, histochemical, and electron microscopical examination of the growth cartilage in two cases showed similar lesions: disorganization of the growth zone with islands of cells, some of them degenerated; abnormal organization of collagen forming thick rims around the cells and wide fibers in the interterritorial matrix; large accumulation of glycogen in most chondrocytes. Both sexes are affected; all patients are isolated cases from normal families.

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The Stiff Skin Syndrome

Liu¹,

McCalmont²,

Frieden³

et al. 2008

Arch Dermatol

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Background: Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity.Observations: We describe 6 children who fit criteria for stiff skin syndrome. A review of the clinical range of this disorder and discussion of the differential diagnosis is presented. The age at onset in our cases ranged from infancy to 6 years of age. Stony-hard skin was noted mostly on the thighs, buttocks, and lower back with shoulder and arm involvement in 2 cases. There was associated hypertrichosis in 3 of 6 cases. Extracutaneous manifestations consisted primarily of joint restriction, and several patients had resulting postural and thoracic wall ir-regularities. Histopathologically, our cases showed areas of fascial sclerosis or showed increased fibroblast cellularity with thickened, sclerotic, horizontally oriented collagen bundles in the deep reticular dermis and/or subcutaneous septa without associated inflammation.Conclusions: Stiff skin syndrome is characterized by an early, insidious onset of stony-hard skin, often with associated contracturelike joint restriction, hypertrichosis, and postural and thoracic wall abnormalities. Supportive histopathologic findings consisting of either fascial sclerosis or increased fibroblast cellularity with sclerotic collagen bundles in the deep reticular dermis and/or subcutaneous septa may help to confirm this diagnosis.

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Geleophysic Dwarfism—a " Focal " Mucopolysaccharidosis ?

Cited by 53 publications

References 6 publications

Patients with geleophysic dysplasia are not always geleophysic

Patients with geleophysic dysplasia are not always geleophysic

Acromicric dysplasia

The Stiff Skin Syndrome

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