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Journal of Hand Surgery, ISSN 0363-5023, 2016, Volume 41, Issue 1, pp. 135 - 143
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2012, Volume 158A, Issue 2, pp. 269 - 291
The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to rename the megalencephaly‐capillary malformation syndrome (MCAP;... 
ventriculomegaly | polymicrogyria | mega corpus callosum | connective tissue dysplasia | hydrocephalus | syndactyly | megalencephaly | capillary malformation | polydactyly | cerebellar tonsillar ectopia | Capillary malformation | Megalencephaly | Hydrocephalus | Ventriculomegaly | Connective tissue dysplasia | Polydactyly | Polymicrogyria | Syndactyly | Cerebellar tonsillar ectopia | Mega corpus callosum | PERISYLVIAN POLYMICROGYRIA | MOTOR DEVELOPMENT | GENETICS & HEREDITY | MACROCEPHALY-CUTIS-MARMORATA | MEGA-CORPUS-CALLOSUM | PSYCHOMOTOR RETARDATION | PATIENT | OF-THE-LITERATURE | DIAGNOSTIC-CRITERIA | CONNECTIVE-TISSUE | MARMORATA-TELANGIECTATICA-CONGENITA | Megalencephaly - pathology | Capillaries - pathology | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Hydrocephalus - pathology | Infant | Male | Polydactyly - diagnosis | Syndactyly - pathology | Brain - growth & development | Morphogenesis | Malformations of Cortical Development - diagnosis | Female | Malformations of Cortical Development - pathology | Child | Neuroimaging - methods | Diagnosis, Differential | Hydrocephalus - diagnosis | Connective Tissue Diseases - diagnosis | Megalencephaly - diagnosis | Connective Tissue Diseases - pathology | Megalencephaly - classification | Brain - pathology | Syndactyly - diagnosis | Polydactyly - pathology
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3114 - 3117
CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A... 
ectodermal dysplasia | Bartsocas‐Papas syndrome | CHAND syndrome | RIPK4 | AEC | Bartsocas-Papas syndrome | KERATINOCYTE DIFFERENTIATION | DEFECTS | ANKYLOBLEPHARON | DISORDERS | POPLITEAL PTERYGIUM SYNDROME | P63 | GENETICS & HEREDITY | SPECTRUM | ECTODERMAL DYSPLASIAS | Cleft Palate - diagnosis | Hair Diseases - genetics | Cleft Lip - diagnosis | Humans | Child, Preschool | Knee - abnormalities | Male | Cleft Palate - genetics | Nails, Malformed - physiopathology | Knee - physiopathology | Language Development Disorders - diagnosis | Hair Diseases - physiopathology | Female | Fetus | Language Development Disorders - physiopathology | Eyelid Diseases - physiopathology | Eyelid Diseases - genetics | Infant, Newborn | Eye Abnormalities - diagnosis | Language Development Disorders - genetics | Protein-Serine-Threonine Kinases - genetics | Cleft Palate - physiopathology | Eye Abnormalities - genetics | Hair Diseases - diagnosis | Nails, Malformed - genetics | Homozygote | Cleft Lip - genetics | Exome - genetics | Cleft Lip - physiopathology | Eyelid Diseases - diagnosis | Eye Abnormalities - physiopathology | Consanguinity | Mutation | Syndactyly - physiopathology | Syndactyly - diagnosis | Nails, Malformed - diagnosis | Syndactyly - genetics | Dysplasia | Popliteal pterygium syndrome | Fetuses | Hereditary diseases
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2011, Volume 155, Issue 4, pp. 880 - 884
Journal Article
Pediatrics, ISSN 0031-4005, 06/2013, Volume 131, Issue 6, pp. e1991 - e1995
Journal Article
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 12/2016, Volume 36, Issue 13, pp. 1270 - 1275
Journal Article
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery, ISSN 1002-1892, 09/2018, Volume 32, Issue 10, p. 1317
To investigate the diagnosis and treatment of thumb polydactyly with symphalangism in children. Seven cases of thumb polydactyly with symphalangism were... 
Osteotomy | Humans | Child, Preschool | Infant | Male | Treatment Outcome | Polydactyly | Range of Motion, Articular | Fracture Fixation, Internal | Syndactyly | Female | Thumb - abnormalities | Child | Postoperative Complications | Finger Phalanges | Reconstructive Surgical Procedures
Journal Article