Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly
under diagnosed. We could find less than 25 cases reported in the literature. Patients were …

Purpose: Microcephaly and chorioretinal dysplasia is a very rare syndrome, characterized
by microcephaly, chorioretinal dysplasia, mental retardation, and is phenotypically classified …

Background: Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare
malformative inherited disorder that can be associated with other systemic features. Other …

Background Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare
syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a …

We describe a male child with prenatal growth retardation, true microcephaly, pedal
lymphoedema and characteristic ocular anomalies. Ophthalmological examination revealed …

We report on a follow‐up examination of a family with microcephaly and lymphedema. The
finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was …

In recent years, several patients with microcephaly, lymphedema and chorioretinal dysplasia
have been described. We have studied two additional patients with similar findings. The …

Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a
distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission …

Congenital microcephaly, defined as a head circumference more than 2 standard deviations
below the mean, results from a primary defect in neural tissue development (not bone …

We report on 2 unrelated patients with microcephaly, lymphedema, and chrorioretinal
changes. They are compared with previously reported patients with microcephaly and …