Microcephaly with chorioretinal dysplasia: Characteristic facial features

Abdel-Salam, Ghada M H; Czeizel, Andr̀ew E.; Vogt, Gábor; Imre, László

doi:10.1002/1096-8628(20001218)95:5<513::aid-ajmg19>3.0.co;2-j

Cited by 10 publications

(6 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In this condition, as in our patients, the lymphedema improves with age. However, no structural brain abnormalities were seen in the four children with this condition in whom imaging had been performed [Abdel‐Salam et al, 2000; Vasudevan et al, 2005]. The patients described here do not have significant microcephaly, eye abnormalities, or similar facial features to MLCRD.…”

Section: Discussionmentioning

confidence: 75%

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

O’Driscoll¹,

Kim²,

Saitta³

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.

show abstract

Section: Discussionmentioning

confidence: 75%

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

O’Driscoll¹,

Kim²,

Saitta³

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…1,4 Our patient also does not fit any one of these syndromes since all of these patients present with mental retardation. 1,4 Limwongse et al reported a case of microcephaly and chorioretinal dysplasia with lymphedema, 9 however, our patient has no evidence of lymphedema.…”

Section: Discussionmentioning

confidence: 89%

“…2−10 Current literature states that patients with these syndromes have mild to severe mental retardation. [2][3][4][5]7 The mild form of autosomal dominant microcephaly with chorioretinopathy may explain our patient's findings, but we believe this is unlikely given her negative family history, negative chromosome studies, lack of clinically apparent cognitive deficits, appropriate milestone development and marked visual improvement. Intelligence testing is being planned for her at an older age.…”

Section: Discussionmentioning

confidence: 99%

“…2−4,7−10 With both inheritance patterns, however, mental retardation has been a prominent finding. [2][3][4][5]7 We report a case of a healthy, two year-old girl with bilateral chorioretinopathy and microcephaly who has appropriately reached all developmental milestones. Her clinical signs appear, in our opinion, inconsistent with a known syndrome.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Chorioretinopathy and Microcephaly with Normal Development

Ahmadi

Bradfield

2007

Ophthalmic Genetics

View full text Add to dashboard Cite

show abstract

“…Patients with microcephaly and chorioretinal dysplasia (also known as chorioretinal dysplasia‐microcephaly mental retardation syndrome, OMIN 156590) suffer from mental retardation, epilepsy and some degree of growth failure. This syndrome was initially described by Alzial and Dufier (4) and the inheritance pattern is autosomal dominant (5–8). A similar expression of chorioretinal dysplasia and microcephaly but with autosomal recessive inheritance (OMIN 251270) was firstly described by McKuzick et al (9).…”

Section: Review Of the Literaturementioning

confidence: 99%