We have reported a rare congenital malformation Apert syndrome
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome
Prenatal Diagnosis of Apert Syndrome
with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis.
Both Kaddy and Elijah, from Selly Oak, were born with Apert Syndrome
, a genetic condition that affects the growth of bones in the hands, feet, and skull.
Jess has Apert syndrome
, which affects her face and has left her with fused fingers.
1 miles last year to raise money for local charities that had helped her son Michael, now 18, cope with Apert Syndrome
, a condition he was born with which means he cannot speak.
As expected, we found that all of the patients with suspected Apert syndrome
in our cohort carried the 2 FGFR2 gene mutations specific for this disease (i.
The researchers used flow cytometry and statistical analysis to observe associations between a subject's age, his semen quality, and genomic abnormalities in his sperm such as DNA fragmentation, aneuploidy, diploidy, and mutations related to achondroplasia and Apert syndrome
In the "Special Faces" series, Burson created sumptuous, richly toned portraits of children and adults born with such craniofacial conditions as progenia (accelerated aging) and Apert syndrome
ca 1,2,3,5,6; French materials ACQUIRED IMMUNE DEFICIENCY SYNDROME See: AIDS ACROCEPHALOSYNDACTYLY, TYPE I See: Apert Syndrome
ACROFACIAL DYSOSTOSlS, NAGER TYPE See: Nager & Miller Syndromes ACROMEGALY See: Multiple Endocrine Neoplasia I; Pituitary Tumors ACTH DEFICIENCY See: Adrenal Disorders ACYL-COA DEHYDROGENASE DEFICIENCY, MEDIUM-CHAIN See: Fatty Oxidation Disorder ADDISON DISEASE See: Adrenal Disorders ADIPOGENITAL-RETINITIS PIGMENTOSA-POLYDACTYLY SYNDROME See: Laurence-Moon-Bardet-Biedl Syndrome ADRENAL CORTEX MALE PSEUDOHERMAPHRODITISM See: Adrenal Disorders ADRENAL DISORDERS National Adrenal Diseases Foundation 505 Northern Blvd.
One had Apert syndrome
, a rare (1 in 160,000 births) congenital anomaly characterized by craniosynostosis and syndactyly of the hands and feet.
Hardware Store Brace: Stuart Young suffers from Apert Syndrome
, a disease that disfigured his face and fused his fingers and toes together.
Doctors believed Daire Flanagan, right, would not survive beyond two days due to Apert syndrome
is a rare congenital autosomal dominant disease with an incidence of 1 per 160,000 live births.
The youngster, who was diagnosed with Apert Syndrome
when he was a baby, which causes abnormal development of the skull and other areas of the body, has endured several operations at the hospital.