Mesomelic dysplasia, type langer?A homozygous state for dyschondrosteosis

Kunze, Jürgen; Klemm, T

doi:10.1007/bf00441485

Cited by 40 publications

(13 citation statements)

References 15 publications

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“…Regarding mesomelic dwarfism of the hypoplastic ulna and fibula type two forms are described a dominant type described by Reinhardt and Pfeiffer (1967) in 10-15 members of a kindred, and mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type which is auto-soma1 recessive and probably represents homozygosity for dyschondrosteosis. Two new reports of this disorder were by Fryns and Vanden Berghe (1979), and by Kunze and Klemm (1980). Achondrogenesis 11, Grebe or Brazilian type, a severe type of dwarfism characterized by various bone aplasias and hypoplasias of the distal long bones of the limbs and hypoplastic digits, first detected and described in two German sisters by Grebe (1952), a new report of this disorder was by Khan and Khan (1982) in an Andhra family which belongs to a highly endogenous group in Pradesh, India.…”

mentioning

confidence: 92%

The Genetics of Hand Malformations: Updated*

Temtamy¹

1985

Congenital Anomalies

129

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The main values of our knowledge of the genetics of birth defects are proper diagnosis and counseling. A classification of hand malformations on anatomic and genetic grounds was proposed by Temtamy (1966), Temtamy and McKusick (1969, 1978): The ten main categories are (1) Absence, (2) Brachydactyly, (3) Syndactyly, (4) Polydactyly, (5) Symphalangism, (6) Arachnodactyly, (7) Macrodactyly, (8) Carpal/Tarsal synostosis, (9) Congenital ring constrictions, and (10) Contractures. The hand malformation is either isolated or associated with other organ malformation as a part of syndromes. In the monograph by Temtamy and McKusick (1978), numerous new syndromes were identified, some of which were based on single or few observations. The paper summerizes the pertinent findings in a computerized literature survey of absence or deficiency malformation as part of synderomes reported between 1977 and 1983. Analysis of the literature confirmed the identity of previously reported syndromes and added “new” entities. The originally proposed classification of hand malformations proved to be useful and allowed for easy sorting out of the recent literature and for indentification of new syndromes.

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mentioning

confidence: 92%

The Genetics of Hand Malformations: Updated*

Temtamy¹

1985

Congenital Anomalies

129

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“…Léri-Weill syndrome (dyschondrosteosis) represents a short stature condition characterized by a symmetric shortening of the forearms and lower legs, and a bilateral shortening and bowing of the radius with a dorsal subluxation of the distal ulna (Madelung deformity) [10,11]. According to the clinical description, Langer's type of mesomelic dysplasia has been suggested to represent the homozygous form of Léri-Weill dyschondrosteosis [12][13][14]. Despite a prevalence of affected women [15], the syndrome was originally suggested to be inherited in an autosomal dominant manner.…”

Section: Shox In Léri-weill Syndromementioning

confidence: 99%

SHOX in Short Stature Syndromes

Blaschke¹,

Rappold²

2001

Horm Res Paediatr

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Linear growth is a multifactorial trait that is influenced and regulated by a combination of environmental and internal factors. Among the intrinsic determinants of final body height, genetic factors have become more and more prominent, and the list of genes involved in growth-related processes has been extended accordingly. One of the most exciting additions to this list is represented by the discovery of the pseudoautosomal gene SHOX. Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also cause mesomelic short stature and Madelung deformity in Léri-Weill syndrome. In addition, recent studies implicate SHOX haploinsufficiency in a variety of somatic Turner syndrome stigmata.

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“…50 All patients with this syndrome have homozygous deficiency of the SHOX gene. 8,43 Fukami et al 37 summarized the clinical and molecular data on 17 patients with LMD reported so far.…”

Section: Langer Mesomelic Dysplasia (Lmd)mentioning

confidence: 99%

Short stature and dysmorphology associated with defects in the SHOX gene

Leka¹,

Kitsiou-Tzeli²,

Kalpini-Mavrou³

et al. 2006

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Since its discovery in 1997, knowledge about the SHOX gene (Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad functional scope and leads to a variety of different morphological-skeletal stigmata associated with these syndromes. This article reviews clinical and molecular data associated SHOX gene defects. Functional ongoing studies are expected to improve our understanding of the SHOX gene as comprising part of a genetic process responsible for normal growth and bone development.

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Mesomelic dysplasia, type langer?A homozygous state for dyschondrosteosis

Abstract: Both parents of a female infant with mesomelic dysplasia, type Langer, showed signs of dyschondrosteosis. This further observation suggests that this type of mesomelic dysplasia may be due to homozygosity for the autosomal dominant gene of dyschondrosteosis.

Cited by 40 publications

References 15 publications

The Genetics of Hand Malformations: Updated*

The Genetics of Hand Malformations: Updated*

SHOX in Short Stature Syndromes

Short stature and dysmorphology associated with defects in the SHOX gene

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