Intrauterine Osteogenesis Imperfecta in Four Siblings

Chawla, Sanjay

doi:10.1136/bmj.1.5375.99

Cited by 14 publications

(10 citation statements)

References 10 publications

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“…Familial occurrence of 0.1. type I1 has been reported previously in 11 families [Sillence et al, 1979a;Braga and Passarge, 1981;Danks, 1975;Hein, 1928;Goldfarb and Ford, 1954;McKusick, 1961;Chawla, 1964;Remigio and Grinvalsky, 1970;Wilson, 1974;Shapiro et al, 1982;Elejalde et al, 19821. Of these families, those of Wilson [ 19741, Braga and Passarge [ 19811 , and one family reported by Sillence et a1 [1979b] and the family of Danks [1975] are being reported again.…”

Section: Discussionmentioning

confidence: 65%

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Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

et al. 1984

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A group of fetuses with a perinatally lethal variety of osteogenesis imperfecta (O.I. type II) is characterized by short limbs, and clinical and roentgenological evidence of severe osseous fragility and defective ossification. Forty-eight cases were reviewed and can be subdivided into 3 groups on the basis of small but probably significant differences in clinical and radiographic findings. Group A (38 cases): short, broad, "crumpled" long bones, angulation of tibiae and continuously beaded ribs. Group B (6 cases): short, broad, crumpled femora, angulation of tibiae but normal ribs or ribs with incomplete beading. Group C (4 cases): long, thin, inadequately modelled, rectangular long bones with multiple fractures and thin beaded ribs. Consistency of findings within sibships suggests the groups reflect genetic heterogeneity. An increased frequency of parental consanguinity, sib occurrence with normal parents, and normal mean paternal age at birth, suggest that most cases of O.I. type II represent autosomal recessive traits. Some previously reported cases and the biochemical findings in one case suggest still further genetic heterogeneity.

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Section: Discussionmentioning

confidence: 65%

“…The family reported by Chawla [1964] probably also represents 0.1. type 11, group A. Families reported by Goldfarb and Ford [1954], Hein [1928], and Braga and Passarge [1981] are examples of 0.1. type 11, group B.…”

Section: Discussionmentioning

confidence: 94%

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

et al. 1984

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“…Chawla (1964) reported 4 sibs with fractures at birth and normal parents. One infant survived to 3 years of age.…”

Section: Discussionmentioning

confidence: 99%

“…However, pedigrees with autosomal recessive inheritance have been reported, including those by Kaplan and Baldino (1953), Rohwedder (1953), Goldfarb and Ford (1954), Adaita (1957), Awwaad and Reda (1960), Chawla (1964), Maloney (1969), Remigio andGrinvalsky (1970), McKusick (1972), Wilson (1974), Horan and Beighton (1975), and Tsuruta and Sugiura (1977).…”

mentioning

confidence: 99%

Genetic heterogeneity in osteogenesis imperfecta.

Sillence¹,

Senn²,

Danks³

1979

Journal of Medical Genetics

1,980

1,229

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“…The occurrence of "sporadic" patients has usually been ascribed to new mutation or to non-penetrance of the gene in the parent (Seedorff 1949). However, there have been a few instances of parental consanguinity (Awwaad & Reda 1960, Remigio & Grin-walsky 1970 or multiple affected siblings with normal parents (Chawla 1964, Goldfarb & Ford 1954, and the possibility has arisen that there may be an autosomal recessive form of 01. McKusick (1972) reviewed the relevent evidence and concluded that an uncommon autosomal recessive form of 0 1 probably exists.…”

Section: Discussionmentioning

confidence: 99%