A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented MED12 deficiency. This study reports the clinical genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes children were normal. Trio whole-exome sequencing Sanger verification found there R296Q variant normal ...

PURPOSE To evaluate the outcomes and complications in a series of children with clinodactyly treated with opening wedge osteotomy of the abnormal phalanx. METHODS We performed a retrospective review of all children with clinodactyly treated at our institution with opening wedge osteotomy of the abnormal middle phalanx between 2003 and 2013. Patients with concomitant pathology or prior surgery...

BACKGROUND 49, XXXXY syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. The classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. CASE A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet...

Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none...

Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead). We report a case of hypokalemic periodic paralysis with dysmorphic facial features and ventricular arrhythmia resembling A...