Monosomy 5p

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

Microspherophakia

Lens of the eye is smaller than normal and spherically shaped.


Total: 2

                       


(per page)
PMID (PMCID)
6620332
 MALE Infant, Newborn
Unusual ocular findings in an infant with cri-du-chat syndrome.
Kitsiou-Tzeli S, Dellagrammaticas HD, Papas CB, Ladas ID, Bartsocas CS.
J Med Genet. 1983;20(4):304-7.
Microspherophakia in cri-du-chat syndrome has not been previously described.
6620332
 MALE Infant, Newborn
Unusual ocular findings in an infant with cri-du-chat syndrome.
Kitsiou-Tzeli S, Dellagrammaticas HD, Papas CB, Ladas ID, Bartsocas CS.
J Med Genet. 1983;20(4):304-7.
A newborn male with cri-du-chat syndrome, congenital nuclear cataracts, microspherophakia, and probably ectopic lenses is reported.