Results 41 to 50 of about 665 (159)

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
Higuchi, Y., Matsuzaki, A., Iwasaki, T., Furukawa, T.   +3 more
openaire   +2 more sources

Computed tomography assessment of Apert syndrome Avaliação da síndrome de Apert por meio da tomografia computadorizada

Brazilian Oral Research, 2004
Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque, Marcelo Gusmão Paraíso Cavalcanti   +1 more
doaj   +1 more source

Apert Syndrome with Fused Thalami.

, 2012
Apert syndrome (Acrocephalosyndactyly type I; AS) is a rare but well-known autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, bony/cutaneous syndactyly of fingers and toes as well as a variety of associated congenital ...
Renzo Manara, Erich Cosmi, COSMI, ERICH, MANARA, RENZO, Kathrin Ludwig, Rugge M., Roberto Salmaso, LUDWIG, KATHRIN, SALMASO, ROBERTO, Maurizia Baldi, Manara R, Ludwig K, Salmaso R, RUGGE, MASSIMO, Massimo Rugge, Cosmi E, Baldi M   +16 more
core   +1 more source

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p-- and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q

, 1994
Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities.
Winter, Robin M., Reardon, William, Malcolm, Sue, Brueton, Louise A., Weissenbach, Jean, Rose, Charlotte S.P., van Herwerden, Lynne   +6 more
core   +1 more source

Pfeiffer's type of acrocephalosyndactyly in two families [PDF]

Journal of Medical Genetics, 1982
Two additional families with Pfeiffer's syndrome are reported in which the wide variability of gene expression is demonstrated.
J, Vanĕk, F, Losan
openaire   +2 more sources

The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p

, 1992
Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases.
Brueton, L.A., van Herwerden, L., Chotai, K.A., Winter, R.M.   +3 more
core   +1 more source

Anesthesia for preoperative non-invasive intracranial pressure measurement in a child with Apert syndrome: a case report

Archives of Pediatric Neurosurgery
Introduction: The presence of craniofacial alterations such as craniosynostosis and midface hypoplasia are some features of Apert syndrome. Those characteristics may lead to intracranial hypertension. For clinical evaluation, a non-invasive intracranial
Luciano Brandão Machado, Michele Madeira Brandao, Andre Ferro, Tales Shinji Sawakuchi Minei, Igor José Nogueira Gualberto, Nivaldo Alonso   +5 more
doaj   +1 more source

Apert Syndrome: A Case Report

, 2023
Background: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet.
Renardy Reza Razali, Munawar Adhar Lubis*   +1 more
core   +1 more source

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

A rare case of neonatal Apert syndrome [PDF]

, 2017
Apert syndrome is a rare Type I acrocephalosyndactyly syndrome. It is a congenital disorder characterized by premature fusionof cranial sutures (craniosynostosis), malformation of skull, hands, face, and feet.
Ahmed, S K Nazeer, Kumar, T Ravi
core