No chromosomal aberrations were present in the cases with mental retardation. [pesquisa.bvsalud.org]

The patient presented here had a bilateral and pedal congenital lymphedema typical of that seen in other MCLMR cases. [karger.com]

Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes. [malacards.org]

The first cousins (patients 19 and 20) of the above siblings also presented with microcephaly, nystagmus, and strabismus. Genetic testing of this family did not show a mutation in the KIF11 gene. [n.neurology.org]

Multimodal imaging in a boy who presented at age 3 years (patient 3). Fundus photographs show mild progression of parafoveal pigmentary changes and inferior chorioretinal atrophy over a 15-year period (A–D). [iovs.arvojournals.org]

• Low Nasal Root

  […] bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye [rarediseases.info.nih.gov]

• Depressed Nasal Bridge

  […] of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ] 0000455 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Chorioretinal dysplasia 0007731 Corneal opacity 0007957 Deep philtrum 0002002 Depressed nasal bridge Depressed [rarediseases.info.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Three of them benefited from danazol treatment without any significant adverse events and one received weekly C1 esterase replacement treatment instead of danazol since she had a medical history of thromboembolic stroke. [pesquisa.bvsalud.org]

[…] and genetic abnormalities were heterogeneous, and partially the etiology of the microcephaly was unknown. [n.neurology.org]

Artigo em Inglês | LILACS | ID: lil-797894 RESUMO Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria [pesquisa.bvsalud.org]

Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome 72 Lymphedema, Microcephaly, Chorioretinopathy Syndrome 57 Microcephaly-Lymphedema-Chorioretinopathy Syndrome 58 Lymphedema Microcephaly Chorioretinopathy Syndrome 72 Characteristics: Orphanet epidemiological [malacards.org]