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Baraitser and Winter syndrome with growth hormone deficiency.

Chentli F, Zellagui H - J Pediatr Neurosci (2014 Sep-Dec)

Bottom Line: To the best of our knowledge, the syndrome is very rare as few cases have been reported so far.Our case looks exactly like BWS.This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrine and Metabolic Diseases, Bab El Oued Teaching Hospital. 5, Boulevard Said Touati, Algiers, Algeria.

ABSTRACT
Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

No MeSH data available.


Related in: MedlinePlus

The proband aged 7, with a dysmorphic face: Large forehead, high arched eyebrows, broad nasal bridge, long philtrum, strabismus, epicanthus, thin lips and short neck
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Figure 1: The proband aged 7, with a dysmorphic face: Large forehead, high arched eyebrows, broad nasal bridge, long philtrum, strabismus, epicanthus, thin lips and short neck

Mentions: Her clinical examination showed an abnormal face with strabismus, a large forehead with high arched eyebrows, epicanthic folds, a broad nasal bridge, very thin lips and a short neck [Figure 1].


Baraitser and Winter syndrome with growth hormone deficiency.

Chentli F, Zellagui H - J Pediatr Neurosci (2014 Sep-Dec)

The proband aged 7, with a dysmorphic face: Large forehead, high arched eyebrows, broad nasal bridge, long philtrum, strabismus, epicanthus, thin lips and short neck
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4302548&req=5

Figure 1: The proband aged 7, with a dysmorphic face: Large forehead, high arched eyebrows, broad nasal bridge, long philtrum, strabismus, epicanthus, thin lips and short neck
Mentions: Her clinical examination showed an abnormal face with strabismus, a large forehead with high arched eyebrows, epicanthic folds, a broad nasal bridge, very thin lips and a short neck [Figure 1].

Bottom Line: To the best of our knowledge, the syndrome is very rare as few cases have been reported so far.Our case looks exactly like BWS.This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrine and Metabolic Diseases, Bab El Oued Teaching Hospital. 5, Boulevard Said Touati, Algiers, Algeria.

ABSTRACT
Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

No MeSH data available.


Related in: MedlinePlus