Premature tracheobronchial, laryngeal and costochondral cartilage calcification in children

Haddad, Mojgan; Sharif, Hassan; Jared, M.S.; Sammak, Bassam M.; Shahed, M. S. Al

doi:10.1016/s0009-9260(05)81215-2

Cited by 18 publications

(15 citation statements)

References 16 publications

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“…first described the syndrome of peripheral pulmonary stenoses, brachytelephalangism, mixed hearing loss, and diffuse calcification of cartilages in a brother and sister born to consanguineous parents. Subsequent reports of nine cases in six families have confirmed this as a recognizable autosomal recessive syndrome [Say et al, 1973;Walbaum et al, 1975;Fryns et al, 1984;Cormode et al, 1986;Khosroshahi et al, 1989;Haddad et al, 1993;Ziereisen et al, 1993]. We report on a new case with some previously unrecognized findings and review the literature in order to further delineate Keutel syndrome.…”

Section: Introductionmentioning

confidence: 53%

“…Cardiac abnormalities, particularly peripheral pulmonary stenosis and/or ventricular septal defect, were documented in 9 of 13 patients. In two cases, they were the cause of presentation [Haddad et al, 1993;Ziereisen et al, 1993]. Our patient does not have cardiac disease.…”

Section: Clinical and Radiological Manifestationsmentioning

confidence: 60%

“…Epiphyseal stippling was noted in the first year of life, as early as 2 months of age, and resembled that seen in Conradi-Hü nermann syndrome [Cormode et al, 1986;Ziereisen et al, 1993]. In other cases, calcification was noted a little later [Say et al, 1973;Haddad et al, 1993] Unlike Keutel syndrome patients, calcification of larynx, trachea, and bronchi is extremely rare in normal children and never occurs in the first decade of life [Hatley et al, 1965]. To date, brain calcification has not been observed in Keutel syndrome, thus in this syndrome there is calcification of noncartilaginous tissues also.…”

Section: Clinical and Radiological Manifestationsmentioning

confidence: 71%

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Keutel syndrome: Further characterization and review

et al. 1998

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Keutel syndrome is a rare autosomal recessive disorder characterized by diffuse cartilage calcification, characteristic physiognomy, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, and borderline to mild mental retardation. We report on an Arab boy with Keutel syndrome and cerebral calcifications identified at 15 years while investigating a seizure disorder. The parents are phenotypically normal first cousins. Thirteen cases in 9 families (including this case) have been published. Six families were consanguineous, two had multiple affected sibs (males and females) and 4 families originated from the Middle East.

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Section: Introductionmentioning

confidence: 53%

Section: Clinical and Radiological Manifestationsmentioning

confidence: 60%

Section: Clinical and Radiological Manifestationsmentioning

confidence: 71%

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Keutel syndrome: Further characterization and review

et al. 1998

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“…In addition to these symptoms, the affected individuals have brachydactyly, hearing loss, developmental delay, and recurrent ear and respiratory infections [Walbaum et al, 1975;Fryns et al, 1984;Cormode et al, 1986;Khosroshahi et al, 1989;Haddad et al, 1993;Ziereisen et al, 1993]. The reported facial features include maxillary hypoplasia, sloping forehead, broad and depressed nasal bridge with hypoplasic alae nasi, and receding chin.…”

Section: Introductionmentioning

confidence: 99%

“…Keutel syndrome (KS) was originally described in a brother and sister born to consanguineous parents [Keutel et al, 1972] and is characterized by abnormal, diffuse cartilage calcification, peripheral pulmonary artery stenoses (PPS), and tracheobronchial narrowing [Say et al, 1973;Meier et al, 2001]. In addition to these symptoms, the affected individuals have brachydactyly, hearing loss, developmental delay, and recurrent ear and respiratory infections [Walbaum et al, 1975;Fryns et al, 1984;Cormode et al, 1986;Khosroshahi et al, 1989;Haddad et al, 1993;Ziereisen et al, 1993]. The reported facial features include maxillary hypoplasia, sloping forehead, broad and depressed nasal bridge with hypoplasic alae nasi, and receding chin.…”

Section: Introductionmentioning

confidence: 99%

A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome

Hur

Raymond

Kahler

et al. 2005

American J of Med Genetics Pt A

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Keutel syndrome (KS) [OMIM 245150] is a rare autosomal recessive condition, characterized by abnormal cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been previously reported in three unrelated KS families. MGP is an extracellular matrix protein that acts as a calcification inhibitor by repressing bone morphogenetic protein 2 (BMP2). Loss-of-function mutations of MGP result in abnormal calcification of the soft tissues, a cardinal feature of KS. We report the fourth MGP mutation (IVS2 + 1G > A) in a consanguineous Arab family, which results in the loss of the consensus donor splice site at the exon 2-intron 2 junction. In addition to the typical manifestations, we observed abnormalities in the white matter of the brain, optic nerve atrophy, and mid-dermal elastolysis in the affected individuals of this family. This report broadens the clinical phenotype observed in patients with KS. The effect of the IVS2 + 1G > A mutation is consistent with the previously reported loss-of-function mutations of MGP.

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Tüysüz

Üngür²,

Akalın³

et al. 1999

Arch Pediatr Adolesc Med

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A 4-YEAR-OLD girl, the offspring of first cousins, was referred for evaluation of unusual appearance. She had a history of frequent upper respiratory tract infections. She was of normal intelligence. Her height, weight, and head circumference were all at the 50th percentile for age. The midface was hypoplastic, with depression of the nasal bridge. The nose was small and flat (Figure 1). The distal phalanges of the thumbs and fingers were short and broad. A grade 2-3/6 systolic murmur was heard over the entire thorax and parascapular areas. Serum calcium, phosphorous, and alkaline phosphatase levels were normal. A chest x-ray film showed striking calcification of the tracheobronchial tree (Figure 2).

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Premature tracheobronchial, laryngeal and costochondral cartilage calcification in children

Cited by 18 publications

References 16 publications

Keutel syndrome: Further characterization and review

Keutel syndrome: Further characterization and review

A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome

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