Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
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Last updated 11 abril 2025


Pediatric dermatology: Cutaneous markers of malformations and

PDF) Facial dysmorphism, skeletal anomalies, congenital glucoma

PDF) Facial dysmorphism, skeletal anomalies, congenital glucoma

Patient 2: (A, B) downslanting palpebral fissures, strabismus

Facial features and limb anomalies of all the patients: a Facial

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as

A neurocutaneous phenotype with paired hypo- and hyperpigmented

Abnormal Body Size and Proportion - ScienceDirect

A novel form of syndromic cutis laxa with facial dysmorphism

Facial dysmorphism, skeletal anomalies, congenital glucoma

PDF) Facial dysmorphism, skeletal anomalies, congenital glucoma

A,B) Study subject 1 at age 8 years. No dysmorphic facial features

Hallermann Streiff Syndrome - an overview

Facial dysmorphism, skeletal anomalies, congenital glucoma

Further delineation of the rare GDACCF (global developmental delay
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