Frontometaphyseal dysplasia presenting as scoliosis.

Medlar, Robert C.; Crawford, Alvin H.

doi:10.2106/00004623-197860030-00022

Cited by 21 publications

(11 citation statements)

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“…In most reported cases, scoliosis is not familial. In the patients of Medlar and Crawford [1978], however, similarly to the first family reported here, the mother and her sons had FMD, and all affected individuals had mild scoliosis. In our two families, the affected individuals had at least moderate scoliosis appearing to manifest in a dominant fashion.…”

Section: Discussionsupporting

confidence: 72%

“…Scoliosis associated with FMD syndrome is usually mild [Weiss et al, 1976;Medlar and Crawford, 1978;Swank et al, 1982;Reardon et al, 1991;Lipson et al, 1993]. It has also been reported in females, as in the patient of Weiss et al [1976], who had typical features of FMD and conductive hearing loss; the patient's son, however, did not inherit this feature in association with FMD.…”

Section: Discussionmentioning

confidence: 99%

“…Mental retardation is uncommon in FMD [Reardon et al, 1991]. Scoliosis and conductive hearing loss [Weiss et al, 1976] are not frequently associated with the syndrome [Medlar and Crawford, 1978;Swank et al, 1982;Reardon et al, 1991;Lipson et al, 1993]. It has been suggested that FMD, the Melnick-Needles osteodysplasty syndrome (MNS), and oto-palato-digital syndrome (OPD) are allelic variants of the same bone dysplasia [Beighton and Hamersma, 1980;Robertson et al, 1997;Superti-Furga, 2000;Verloes et al, 2000].…”

Section: Introductionmentioning

confidence: 99%

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Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Morava

Illés

Weisenbach

et al. 2002

American J of Med Genetics Pt A

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Frontometaphyseal dysplasia is a rare genetic syndrome affecting the skeletal system and connective tissue. It is believed to be inherited as an X-linked trait. Features of frontometaphyseal dysplasia overlap with other skeletal dysplasias. Prominent supraorbital ridges, radiologic evidence of cranial hyperostosis, and flared metaphyses are characteristic. Scoliosis, a rare associated finding, is usually mild, and familial progressive scoliosis has not been reported so far. The skeletal dysplasia and the associated clinical findings show significant intra- and interfamilial variability. The syndrome has been suggested to be an allelic variant of the Melnick-Needles osteodysplasty, an X-linked (dominant) entity. We present two families with frontometaphyseal dysplasia, in which both males and females showed the facial and skeletal features of the syndrome in association with progressive scoliosis. Some of the affected members also had hearing loss and urogenital anomalies, supporting the existence of the recently suggested entity "fronto-otopalatodigital-osteodysplasty syndome".

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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Morava

Illés

Weisenbach

et al. 2002

American J of Med Genetics Pt A

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“…Pulmonary hypertension Danks et al [1972] S.C. Atrial septal defect? Holt et al [1972]; Stern et al [1972] 1st Malformation of the bronchial tree Arenberg et al [1974] 2nd Hyperopia and strabismus Sauvegrain et al [1975] 1st Pelvocaliceal and ureteral dilation 2nd Respiratory distress and wheezing Weiss et al [1976] S.C. Grade 2/6 systolic murmur Nerve conduction delay Kassner et al [1976] S.C. Pyelonephritis and hydronephrosis von Kleinsorge and Böttger [1977] S.C. Sellars and Beighton [1978] S.C. Cryptorchidism Böttger et al [1978] S.C. Medlar and Crawford [1978] S.C. Kanemura et al [1979] S.C. Uretral stenosis + anomalies of ureterovescical junction Gorlin and Winter [1980] S.C. Beighton and Hamersma [1980] S.C. Fitzsimmons et al [1982] 1st Urethral valves + hydronephrosis Narrowing of subglottic area Bilateral inguinal hernia + cryptorchidism 2nd Subglottic stenosis + anterior web Balestrazzi [1985] S.C.N. Pulmonary stenosis + atrial septal defect Cryptorchidism Lipson et al [1993] S.C. Glass and Rosenbaum [1995] 1st N. Singular atrioventricular valve Pulmonary stenosis Atrial septal defect Bilateral renal duplication 2nd N. Pulmonary atresia Tricuspid atresia Patent ductus arteriosus Present patient S.C.N.…”

Section: Discussionmentioning

confidence: 99%

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia

et al. 1997

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Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a patient who, in addition to the clinical manifestations characteristic of the syndrome, showed esophageal atresia with distal tracheoesophageal fistula. Particular emphasis is given to the extraskeletal manifestations of the syndrome reported in the literature.

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“…It is fully manifested in hemizygous males, and mildly in heterozygous females. The radiological findings are included in Table II [Gorlin et al, 1969; Danks et al, 1972; Medlar and Crawford, 1978]. The long and short bones are under modeled, with an EFD appearance mainly of the distal femora.…”

Section: Discussionmentioning

confidence: 99%

The Erlenmeyer flask bone deformity in the skeletal dysplasias

Faden

Krakow

Ezgu

et al. 2009

American J of Med Genetics Pt A

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Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di-metaphysis with abnormal cortical thinning and lack of the concave di-metaphyseal curve resulting in an Erlenmeyer flask-like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinct disorders were associated with EFD. We interrogated the International Skeletal Dysplasia Registry (ISDR) radiographic database (1988–2007) to determine which skeletal dysplasias or syndromes were highly associated with EFD, whether it was a uniform finding in these disorders, and if forms of EFD could be differentiated. EFD was classified into three groups. The first catogory was the typical EFD shaped bone (EFD-T) resultant from absent normal di-metaphyseal modeling with relatively normal appearing radiographic trabecular bone. EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, metaphyseal dysplasia-Pyle type, Melnick–Needles osteodysplasty, and otopalatodigital syndrome type I. The second group was the atypical type (EFD-A) due to absence of normal di-metaphyseal modeling with abnormal radiographic appearance of trabecular bone and was seen in dysosteosclerosis and osteopetrosis. The third group was EFD-marrow expansion type (EFD-ME) in which bone marrow hyperplasia or infiltration leads to abnormal modeling (e.g., Gaucher disease). Further, radiographic review determined that it was not always a consistent finding and that there was variability in both appearance and location within the skeleton. This analysis and classification aided in differentiating disorders with the finding of EFD.

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Frontometaphyseal dysplasia presenting as scoliosis.

Cited by 21 publications

References 0 publications

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia

The Erlenmeyer flask bone deformity in the skeletal dysplasias

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