[email protected] (受疫情影响,东南亚目前只开放曼谷诊所)
全周 (9AM - 5PM)

我们和你在一起

Extra info thumb
  • 总部: 泰国曼谷市巴吞汪区仑披尼分区 普勒吉路齐隆巷5号.
  • [email protected]
OCULOPALATOCEREBRAL SYNDROME

OCULOPALATOCEREBRAL SYNDROME

Alternative titles; symbolsOCULOPALATOCEREBRAL DWARFISMOPC DWARFISM▼ DescriptionOculopalatocerebral syndrome is a rare disorder characterized by low birth weight...

Alternative titles; symbols

  • OCULOPALATOCEREBRAL DWARFISM
  • OPC DWARFISM

▼ Description
Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy (summary by Pellegrino et al., 2001).

▼ Clinical Features
In 3 of 4 offspring of a consanguineous couple of Moroccan Jewish descent, Frydman et al. (1985) found microcephaly, mental retardation, spasticity, cleft palate, persistent hypertrophic primary vitreous (PHPV; see 611308), and short stature. PHPV may occur in full-term infants and is characterized by unilateral and rarely bilateral microphthalmos with leukocoria due to the presence of a retrolental fibrovascular membrane (Haddad et al., 1978).

Pellegrino et al. (2001) reported a case of this disorder in a 2-year-old boy who had growth delay, microcephaly, bilateral persistent hyperplastic primary vitreous with right microphthalmia, long ears with thickened helices, small hands and feet, highly arched palate, joint hypermobility, hypoplastic nails, frontal cerebral atrophy and thinning of the corpus callosum on brain MRI, and mild developmental delay.

Alanay et al. (2004) described a third patient with oculopalatocerebral syndrome, supporting autosomal recessive inheritance because of parental consanguinity. The patient had bilateral microphthalmia, bilateral PHPV, microcephaly, cleft palate, thick helices with large earlobes, full cheeks, small hands and feet, and developmental delay with atopic symptoms. In the family reported by Alanay et al. (2004), a second case of oculopalatocerebral syndrome had occurred. This was the son of a paternal uncle married to a second cousin. At 12 months of age he was severely retarded with lack of head control, quadriplegia, and inability to speak. He had microphthalmia and PHPV in the right eye, optic atrophy in the left eye, cleft palate, and right undescended testis. Atopic dermatitis was also noted in the hospital record. Alanay et al. (2004) suggested that the disorder should be called oculopalatocerebral syndrome rather than oculopalatocerebral dwarfism, as short stature may not be a feature.

▼ Inheritance
Parental consanguinity in the patients with oculopalatocerebral syndrome reported by Frydman et al. (1985) and Alanay et al. (2004) suggests autosomal recessive inheritance.

Tags: none