The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.
Am J Med Genet A
; 155A(3): 459-65, 2011 Mar.
Article
in En
| MEDLINE
| ID: mdl-21567902
ABSTRACT
Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. We report on two siblings, a 6-year-old girl and an 18-month-old male, presenting with overlapping clinical findings. Major characteristics included facial dysmorphisms with upward slanted palpebral fissures, blepharophimosis, telecanthus, hypertelorism, posteriorly rotated and abnormal ears, and micrognathia. Ectodermal abnormalities consisted of fine hair, sparse eyebrows, and thin skin. Both patients had feeding difficulties with gastro-esophageal reflux and growth retardation. Psychomotor skills were severely delayed with no verbal capacity. The male sib also displayed low growth hormone (GH) levels, while the older sister had low cholesterol and mildly elevated TSH levels. Numerous metabolic/genetic investigations, including cholesterol precursors, dosage, and high-resolution array-CGH, were negative. BMR syndromes, including Dubowitz syndrome, Marden-Walker syndrome, Ohdo/Ohdo-like syndromes, and the cholesterol storage disorders were considered. We concluded that these two patients are affected by a possible autosomal recessive condition within the heterogeneous clinical spectrum of BMRS, fitting with the Young-Simpson syndrome subtype.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Blepharophimosis
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Siblings
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Intellectual Disability
Limits:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
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Pregnancy
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2011
Document type:
Article
Affiliation country:
Italia