The Experts below are selected from a list of 264 Experts worldwide ranked by ideXlab platform
Michael M Cohen - One of the best experts on this subject based on the ideXlab platform.
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hunter mcalpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q
American Journal of Medical Genetics, 1996Co-Authors: Karen E Prescott, Loris Mcgavran, David K Manchester, Janet A Thomas, Richard Milner, Michael M CohenAbstract:Hunter-McAlpine syndrome is an autosomal dominant disorder consisting of variable manifestations including craniosynostosis, almond-shaped palpebral fissures, small mouth, mild acral-skeletal anomalies, short stature, and Mental Deficiency. We report on a 9-year-old boy with this phenotype with more severe skeletal abnormalities than previously described. Chromosomes showed del(17)(q23.1{r_arrow}q24.2); the more severe phenotype may be explained by the deletion. The deletion also suggests the possibility that the gene for Hunter-McAlpine syndrome might map to that region. 8 refs., 5 figs., 2 tabs.
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proteus syndrome clinical evidence for somatic mosaicism and selective review
American Journal of Medical Genetics, 1993Co-Authors: Michael M CohenAbstract:I report 2 unusual cases of Proteus syndrome that support the concept of somatic mosaicism. In one patient, a huge connective tissue nevus covered the chest and abdomen and hyperostoses of the calvaria were observed. In the other patient, linear verrucous epidermal nevi, epibulbar dermoids, and hyperostoses were found. No enlargement of the limbs or digits occurred and the plantar surfaces of the feet were normal. Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe Mental Deficiency; and types of abnormal growth in the craniofacial skeleton. © 1993 Wiley-Liss, Inc.
Janet A Thomas - One of the best experts on this subject based on the ideXlab platform.
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hunter mcalpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q
American Journal of Medical Genetics, 1996Co-Authors: Karen E Prescott, Loris Mcgavran, David K Manchester, Janet A Thomas, Richard Milner, Michael M CohenAbstract:Hunter-McAlpine syndrome is an autosomal dominant disorder consisting of variable manifestations including craniosynostosis, almond-shaped palpebral fissures, small mouth, mild acral-skeletal anomalies, short stature, and Mental Deficiency. We report on a 9-year-old boy with this phenotype with more severe skeletal abnormalities than previously described. Chromosomes showed del(17)(q23.1{r_arrow}q24.2); the more severe phenotype may be explained by the deletion. The deletion also suggests the possibility that the gene for Hunter-McAlpine syndrome might map to that region. 8 refs., 5 figs., 2 tabs.
D Garcfacruz - One of the best experts on this subject based on the ideXlab platform.
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individualization of a syndrome with Mental Deficiency macrocranium peculiar facies and cardiac and skeletal anomalies
Clinical Genetics, 2008Co-Authors: J. -m. Cantú, Jose Sanchezcorona, A Hernandes, Z Nazara, D GarcfacruzAbstract:The authors report four unrelated girls presenting mild Mental Deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.
J. -m. Cantú - One of the best experts on this subject based on the ideXlab platform.
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individualization of a syndrome with Mental Deficiency macrocranium peculiar facies and cardiac and skeletal anomalies
Clinical Genetics, 2008Co-Authors: J. -m. Cantú, Jose Sanchezcorona, A Hernandes, Z Nazara, D GarcfacruzAbstract:The authors report four unrelated girls presenting mild Mental Deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.
M Michael Cohen - One of the best experts on this subject based on the ideXlab platform.
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Mental Deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes.
American journal of medical genetics. Part C Seminars in medical genetics, 2003Co-Authors: M Michael CohenAbstract:Mental Deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes.