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Venous anomalies in hypoplastic posterior fossa: unsolved questions
(Springer, 2021)
De novo del(7)(pter→p21.2::p15.2→qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome
(1986)
A 4-year-old boy was found to have a typical 7p2 monosomy syndrome, including craniosynostosis, due to a de novo del(7)(pter→p21.2::p15.2→qter). It is concluded that the band 7p21 (probably only the subband p21.1) is the ...
De novo del(7)(pter?p21.2::p15.2?qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome
(1986)
A 4-year-old boy was found to have a typical 7p2 monosomy syndrome, including craniosynostosis, due to a de novo del(7)(pter?p21.2::p15.2?qter). It is concluded that the band 7p21 (probably only the subband p21.1) is the ...
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene
(2005)
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252 Trp in the FGFR2 gene: The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, ...
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene
(2005)
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252 Trp in the FGFR2 gene: The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, ...
Síndrome de Apert, reporte de caso clínico
(Universidad de Cuenca. Facultad de Ciencias Médicas, 2017-04)
Apert syndrome also called acrocephalosyndactyly
Type I is characterized by craniosynostosis , symmetric
syndactyly in all four limbs , mental retardation , skin and
maxillofacial disorders ; It is caused by a mutation ...
Dysgnathia complex sine holoprosencephaly nor synotia: A case report and discussion of its nosology
(2013)
A severe mandibular hypoplasia and microstomy with intraoral anomalies including hypoglossia, fused gums, persistence of buccopharyngeal membrane, and laryngeal hypoplasia were noted in a female newborn with the dysgnathia ...
Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism
(2011)
We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ?17-Mb 5q terminal duplication and an ?12-Mb 9p terminal deletion as determined by G-banding, ...
Dysgnathia complex sine holoprosencephaly nor synotia: A case report and discussion of its nosology
(2013)
A severe mandibular hypoplasia and microstomy with intraoral anomalies including hypoglossia, fused gums, persistence of buccopharyngeal membrane, and laryngeal hypoplasia were noted in a female newborn with the dysgnathia ...
Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism
(2011)
We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ∼17-Mb 5q terminal duplication and an ∼12-Mb 9p terminal deletion as determined by G-banding, ...