Corpus ID: 34933851

Cantu syndrome - A case report.

@article{Joy2012CantuS,
  title={Cantu syndrome - A case report.},
  author={Rojo Joy and Pournami Femitha and Harikrishnan and Bahubali D. Gane and Bethou Adhisivam and B VishnuBhat},
  journal={Current Pediatric Research},
  year={2012},
  volume={16},
  pages={0}
}
Cantu syndrome is a rare congenital disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, macrocephaly, short body stature, prominent or enlarged forehead, wide set and bulging eyes, loose skin with wrinkled palms and soles of the feet, hyperextensible joints, wide ribs and small vertebrae. We describe a newborn with features of Cantu syndrome. 

References

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Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.
TLDR
The parents of one of the children with Cantu syndrome are first cousins, adding weight to Cantu's theory that the condition is an autosomal recessive disease. Expand
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.
TLDR
A new case of a syndrome first described by Cantú et al. comprising congenital hypertrichosis, "coarse" facial appearance, and mild osteochondrodysplasia is reported, which has some unusual radiological findings. Expand
A distinct osteochondrodysplasia with hypertrichosis—Individualization of a probable autosomal recessive entity
SummaryTwo sibs and two other unrelated patients presented a distinct previously undescribed syndrome consisting of generalized congenital hypertrichosis, macrosomy at birth, narrow thorax,Expand
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia.
We report on a boy with congenital hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantú et al., Hum Genet 60:36-41, 1982].Expand
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome.
TLDR
Comparison of all eight cases indicates that they share 50% of clinical and radiological changes, which contributes to the further delineation of this newly recognized syndrome. Expand
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.
TLDR
A segregation analysis based on all reported families to date indicates autosomal recessive inheritance is unlikely in Cantú syndrome; a new dominant mutation or microdeletion syndrome are more likely possibilities. Expand
Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).
TLDR
This is the first reported instance of male-to-male transmission of CS and the affected members are the 44-year-old father and his two children, aged 14 and 4 years, respectively; each shows the classic characteristics, but the father and the brother also have a previously unreported feature, namely, a thick calvarium. Expand
Inherited hype rtrichoses
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