Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23

Turleau, C; Chavin-Colin, F; Grouchy, J. de; Maroteaux, P; Rivera, Horacio

doi:10.1007/bf00333515

Cited by 41 publications

(24 citation statements)

References 16 publications

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“…The authors proposed that the genes of the two conditions were contiguous. Turleau et al (1982) also described a boy with LGS and bilateral tibial hemimelia. Future examination of these regions may lead to the identification of the disease gene for tibial hemimelia.…”

Section: Resultsmentioning

confidence: 98%

A pair of sibs with tibial hemimelia born to phenotypically normal parents

et al. 2003

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Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. Tibial hemimelia is identified as a solitary disorder, or a part of more complex malformation syndromes. Although the majority of cases with tibial hemimelia are sporadic, affected families with possible autosomal dominant or autosomal recessive inheritance have been reported. Here we report a pair of sibs, 6-and 2-year-old Japanese boys, with tibial hemimelia born to unrelated, phenotypically normal parents. The type of tibial hemimelia and associated malformations of hands and feet was quite different between the brothers. The elder brother was compatible with the Gollop-Wolfgang complex, and the younger brother with tibial agenesisectrodactyly syndrome. Screening of mutation by direct sequencing of candidate genes including Sonic hedgehog, HOXD-11, and HOXD-12 was unable to identify a disease-causing mutation.

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Section: Resultsmentioning

confidence: 98%

A pair of sibs with tibial hemimelia born to phenotypically normal parents

et al. 2003

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“…The deletion in our patient extends proximally into the 8q23 band and she has the unusual findings of bilateral tibial hemimelia and unilateral ulnar deficiency. A review yielded one other case of Langer-Giedion syndrome and bilateral tibial hemimelia involving an 8-year-old boy [Turleau et al, 1982]. He also had lumbosacral agenesis and left hip dislocation.…”

Section: Discussionmentioning

confidence: 98%

Tibial hemimelia in Langer-Giedion syndrome?possible gene location for tibial hemimelia at 8q

Stevens

Moore

1999

Am. J. Med. Genet.

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We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turleau et al. [1982: Hum. Genet. 62:183-187]. The critical region for TRPS II is 8q24.1. Although no genes involving limb development in the human have been identified in this region, two mouse syndromes are localized to the homologous chromosome region of 9A1-A4 which involve limb abnormalities. We propose that a gene involved in limb development is contiguous with the TRPS II gene which, when deleted, may cause tibial hemimelia.

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“…Deletions of chromosome 8 have been asso ciated with a number of developmental abnormalities, the most well known being Langer-Giedion syndrome (Turleau et al, 1982). Deletion of 8q23->q24 has been implicated in the patho genesis of Langer-Giedion syndrome, which is characterized by multiple exostoses, microcephaly, mental retardation, and a characteristic facies.…”

Section: Discussionmentioning

confidence: 99%