+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q



Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q



Journal of the American Academy of Dermatology 28(2 Pt 2): 364-370



We describe a 2 1/2-year-old boy who has hirsutism and ringed creases of the extremities associated with an underlying smooth muscle hamartoma. Cutaneous findings in this child resemble those in other reports of the "Michelin tire syndrome." Histologic examination showed numerous well-demarcated fascicles of smooth muscle cells randomly distributed at all levels of the reticular dermis with haphazard orientation. These cells were immunoreactive with desmin, which confirmed their smooth muscle nature. In addition to the skin changes, this child has multiple unusual phenotypic anomalies, some of which have not previously been associated with the Michelin tire syndrome. These include distinctive facial dysmorphia, submucous cleft palate, lateral clefting of the mouth, genital, and dental anomalies. He also developed seizures at age 2 1/2 years and has moderate developmental delay. The patient and his mother have apparently identical paracentric inversions of the long arm of chromosome 7 (46,XY,inv(7)(q22q31.3) with no detectable loss or gain of either chromosomal material or DNA markers from the cystic fibrosis (CFTR) region. The relevance, if any, of the karyotypic abnormality to the phenotype in this child is discussed.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 034181704

Download citation: RISBibTeXText

PMID: 8436660


Related references

Generalized smooth muscle hamartoma with multiple congenital anomalies without the "Michelin tire baby" phenotype. Pediatric Dermatology 31(6): 731-733, 2015

Michelin-tire baby syndrome resulting from diffuse smooth muscle hamartoma. Pediatric Dermatology 6(4): 329-331, 1989

Paracentric inversion of chromosome 18 with duplication of the inverted material in a child due to a maternal paracentric inversion of 18q. American Journal of Human Genetics 57(4 SUPPL ): A115, 1995

Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. Clinical Dysmorphology 22(2): 87-90, 2013

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. American Journal of Medical Genetics 86(2): 112-114, 1999

Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1). Clinical Genetics 27(6): 600-605, 1985

Familial Michelin tire baby syndrome. Indian Journal of Dermatology 57(1): 74-76, 2012

Down syndrome due to a recombination of a chromosome 21 paracentric inversion in 1 of 2 cases with a review of paracentric recombinants. American Journal of Human Genetics 55(3 SUPPL ): A108, 1994

Sweet's syndrome associated with paracentric inversion of chromosome 3q in a patient with multiple myeloma. European Journal of Haematology 57(2): 188-189, 1996

Variability in the Michelin tire syndrome. Journal of the American Academy of Dermatology 28(2): 364-370, 1993

Case of familial Michelin tire baby syndrome. Journal of Dermatology 42(5): 534-536, 2016

Deletion of chromosome 11 in babies with Michelin Tire syndrome. Archives of Dermatology 116(6): 621-622, 1980

Familial paracentric inversion of chromosome 6. American Journal Of Human Geneticssuppl: A105, 1988

A recombinant chromosome 15 with duplication of the Prader-Willi/Angelman syndrome critical region arising from a familial intrachromosomal insertion, previously described as a paracentric inversion of 15q11-q15. Journal of Medical Genetics 39(Supplement 1): S24, 2002

Reproductive risk of paracentric inversion carriers: report of two unrelated cases with paracentric inversion of the long arm of chromosome 3. Jinrui Idengaku Zasshi. Japanese Journal of Human Genetics 30(2): 57-67, 1985