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Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome [PDF]
DiagnosticsApert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and ...
Valentin Nicolae Varlas +2 more
doaj +2 more sources
Apert syndrome (Acrocephalosyndactyly): a case report [PDF]
, 2017 Apert syndrome is named for the French physician. Eugene Apert in 1906 described the syndrome acrocephalosyndactylia. It is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of
Kumar, M. Praveen +2 more
core +3 more sources
Apert syndrome: Diagnostic and management problems in a resource-limited country [PDF]
Pediatric Reports, 2019 Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old.
Makoura Barro +8 more
doaj +2 more sources
Acrocephalosyndactyly, or apert's syndrome
British Journal of Plastic Surgery, 1968 Summary 1.Four typical examples of Apert's syndrome are presented. 2.The literature on this subject is reviewed. 3.Current views regarding the aetiology and treatment are discussed. 4.Chromosome studies on one case are reported.
R.C. Buchanan
openaire +3 more sources
Variable expressivity in acrocephalosyndactyly syndrome type I. A report of two patients
Acta Médica del Centro, 2015 Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia and severe bone skin and symmetrical syndactyly of hands and feet.
Noel Taboada Lugo +2 more
doaj +1 more source
A Case of Acrocephalosyndactyly
Orthopedics & Traumatology, 1980 A case of Apert's syndrome was reported.A 13 month-old girl: normal delivery.Abnormalities of the hands, feet and face were noticed at her birth. Her hands and feet showed high degrees of syndactylism—the so-called mitten hand and spatula foot.Craniectomy was performed when she was 3 months old. Release of the thumb and the first toe was carried out on
Y. Higuchi +3 more
openaire +3 more sources
Apert syndrome with partial polysyndactyly: A proposal on the classification of acrocephalosyndactyly [PDF]
Japanese Journal of Human Genetics, 1988 Yoshinori Izumikawa +7 more
exaly +2 more sources