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Acrocephalosyndactyly (Apert's Syndrome)
Archives of Ophthalmology, 1967A case of acrocephalosyndactyly in a 63-year-old woman is reported. The intelligence, sex, and racial distribution, hereditary tendency, and chromosomal analysis of acrocephalosyndactyly is discussed. Ocular complications of this syndrome were noted to be mainly optic atrophy, exophthalmos, and strabismus.
M, Seelenfreund, S, Gartner
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Journal of Pediatric Orthopaedics, 1999
Apert's syndrome (acrocephalosyndactyly type 1) is characterised by anomalies of the cranium, hands, and feet. The cranial and hand anomalies have been investigated, and the management of these is well established. In contrast, the anomalies affecting the feet and their management has previously received little attention.
P J, Anderson +4 more
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Apert's syndrome (acrocephalosyndactyly type 1) is characterised by anomalies of the cranium, hands, and feet. The cranial and hand anomalies have been investigated, and the management of these is well established. In contrast, the anomalies affecting the feet and their management has previously received little attention.
P J, Anderson +4 more
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Clinics in Plastic Surgery, 1991
Foot deformity in Apert syndrome is very characteristic and predictable. Progressive synostosis occurs on what is presumably an unsegmented cartilaginous mass. The first ray shortens with medial deviation of the great toe, secondary to growth abnormality and a delta phalanx. The two phalanx digits characteristically go on to fusion, with maintenance of
J, Mah, J, Kasser, J, Upton
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Foot deformity in Apert syndrome is very characteristic and predictable. Progressive synostosis occurs on what is presumably an unsegmented cartilaginous mass. The first ray shortens with medial deviation of the great toe, secondary to growth abnormality and a delta phalanx. The two phalanx digits characteristically go on to fusion, with maintenance of
J, Mah, J, Kasser, J, Upton
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Hydrocephalus in Apert's syndrome
The Journal of Pediatrics, 1971Six children with Apert's syndrome were studied by means of pneumoencephalography or postmortem examination. Varying degrees of hydrocephalus were noted in all cases. It is suggested that hydrocephalus in association with this syndrome is more common than previously reported and that shunting procedures should be considered in an effort to decrease the
G R, Hogan, M L, Bauman
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Clinics in Plastic Surgery, 1991
An acneiform eruption is a well-recognized feature of Apert syndrome. Management is determined by the extent and morphology of the eruption. This article details treatment procedures for acne that closely resembles acne vulgaris.
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An acneiform eruption is a well-recognized feature of Apert syndrome. Management is determined by the extent and morphology of the eruption. This article details treatment procedures for acne that closely resembles acne vulgaris.
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Acrocephalosyndactyly, or apert's syndrome
British Journal of Plastic Surgery, 1968Summary 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.
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Apert Syndrome with Fused Thalami
Fetal and Pediatric Pathology, 2012Apert 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 anomalies involving the brain, heart, limbs and other organ systems.
LUDWIG, KATHRIN +5 more
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The Journal of the Association of Physicians of India, 2015
Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.
Saikat, Datta +4 more
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Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.
Saikat, Datta +4 more
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Cutis, 1980
We report herein a case of Apert's syndrome, which is characterized clinically by cranial, facial, and limb malformations. Acne vulgaris of the upper extremities constitutes the dermatologic hallmark of this rarely reported disorder.
P Z, McNaughton, O G, Rodman
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We report herein a case of Apert's syndrome, which is characterized clinically by cranial, facial, and limb malformations. Acne vulgaris of the upper extremities constitutes the dermatologic hallmark of this rarely reported disorder.
P Z, McNaughton, O G, Rodman
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Germinal mosaicism in Apert syndrome
Clinical Genetics, 1986Judith E Allanson, Judith E Allanson
exaly