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]

• Lymphedema

  We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema. Am. J. Med. Genet. 86:215–218, 1999. 1999 Wiley‐Liss, Inc. [onlinelibrary.wiley.com]

  None (1985) Dominantly inherited syndrome of microcephaly and congenital lymphedema. 16. None (1987) Dominantly inherited syndrome of microcephaly and congenital lymphedema with normal intelligence. 17. [moldiag.com]

  Without Mental Retardation 72 Microcephaly with/without Chorioretinopathy, Lymphedema, or Mental Retardation 39 Lymphedema and Retinal Folds with Ficrocephaly and Microphthalmos 12 Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome 72 Lymphedema [malacards.org]

  Entry H01876 Disease Name Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome; Chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome [genome.jp]

  No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.. [dial.uclouvain.be]

• Atrial Septal Defect

  septal defect: a case report and review of the literature, 10.1111/j.1651-2227.2008.01161.x Gupta Abha, Vasudevan P., Biswas S., Smith J. [dial.uclouvain.be]

  In the MCLMR review, 8% of the patients had cardiac anomalies including patent foramen ovale, thickened pulmonary valve, hypertrophic cardiomyopathy, and atrial septal defect [Jones et al., 2014]. [karger.com]

  septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631 25 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936 26 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042 27 muscle stiffness 58 31 occasional (7.5% [malacards.org]

• Small Head

  Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small [rarediseases.info.nih.gov]

• Visual Acuity Decreased

  acuity Decreased clarity of vision 0007663 Retinal detachment Detached retina 0000541 Retinal fold 0008052 Seizure 0001250 Simplified gyral pattern 0009879 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Thick lower lip vermilion [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]