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1.
[Thomas syndrome].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 722-3, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528987

Subject(s)
Cleft Lip , Cleft Palate , Heart Defects, Congenital , Abnormalities, Multiple , Humans , Syndrome
2.
[Thoracic dysplasia-hydrocephalus syndrome].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 724-5, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528988

Subject(s)
Hydrocephalus , Thorax/abnormalities , Female , Humans , Infant , Male , Syndrome
3.
[Thoracopelvic dysostosis, thoracolaryngopelvic dysplasia, Barnes syndrome].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 726, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528989

Subject(s)
Bone Diseases, Developmental/congenital , Larynx/abnormalities , Thorax/abnormalities , Adolescent , Humans , Infant , Pelvic Bones/abnormalities
4.
[Thrombocytopenia-absent radius, TAR syndrome].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 727-8, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528990

Subject(s)
Radius/abnormalities , Thrombocytopenia/congenital , Humans , Infant , Infant, Newborn , Syndrome
5.
[Thumb, triphalangeal].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 729-30, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528991

Subject(s)
Thumb/abnormalities , Female , Humans , Male
6.
[Tibial aplasia/hypoplasia].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 731, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528992

Subject(s)
Tibia/abnormalities , Humans
7.
[Waardenburg syndromes].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 802-3, 2001.
Article in Japanese | MEDLINE | ID: mdl-11529031

Subject(s)
Waardenburg Syndrome , Humans
8.
[Chromosome 4].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 388-90, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462486

Subject(s)
Chromosomes, Human, Pair 4 , Chromosome Aberrations , Humans , Monosomy , Trisomy
9.
[Color blindness, blue monocone-monochromatic].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 481-2, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462526

Subject(s)
Color Vision Defects , Color , Humans , Male
10.
[Colpocephaly].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 483, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462527

Subject(s)
Brain/abnormalities , Humans
11.
[Congenital hypothalamic hamartoma syndrome].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 484-5, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462528

Subject(s)
Hamartoma/congenital , Hypothalamic Diseases/congenital , Humans , Syndrome
12.
[Contractures, congenital lethal Finnish type].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 486-7, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462529

Subject(s)
Contracture/congenital , Female , Humans , Male , Syndrome
13.
[Contractures-muscle atrophy-oculomotor apraxia].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 488-9, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462530

Subject(s)
Apraxias/congenital , Contracture/congenital , Muscular Atrophy/congenital , Oculomotor Nerve Diseases/congenital , Humans , Male
14.
[Convulsion, benign familial neonatal].
Kubota, H; Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 490-1, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462531

Subject(s)
Seizures/genetics , Humans , Infant, Newborn
15.
[Corneal dystrophy, endothelial].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 492, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462532

Subject(s)
Corneal Dystrophies, Hereditary , Female , Humans , Male
16.
[Corpus callosum agenesis].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 493-5, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462533

Subject(s)
Agenesis of Corpus Callosum
17.
[Dwarfism-dysmorphic facies-retardation, Pitt type, Pitt-Rogers-Danks syndrome, Wolf-Hirschhorn syndrome, 4p-syndrome].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (33): 584-5, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462581

Subject(s)
Dwarfism , Facies , Growth Disorders , Humans , Intellectual Disability , Syndrome
18.
Vietnamese sisters with Grebe syndrome on a TV program in Japan.
Ishikiriyama, S.
Clin Genet ; 60(6): 474-5, 2001 Dec.
Article in English | MEDLINE | ID: mdl-11846743

Subject(s)
Dwarfism/genetics , Genes, Recessive , Limb Deformities, Congenital/genetics , 2,4,5-Trichlorophenoxyacetic Acid/adverse effects , 2,4-Dichlorophenoxyacetic Acid/adverse effects , Abnormalities, Drug-Induced/diagnosis , Agent Orange , Child , Family Health , Female , Humans , Limb Deformities, Congenital/etiology , Polychlorinated Dibenzodioxins/adverse effects , Polydactyly/genetics , Syndrome , Television , Vietnam
19.
[Clouston syndrome, hydrotic ectodermal dysplasia].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (30 Pt 5): 161-2, 2000.
Article in Japanese | MEDLINE | ID: mdl-11057179

Subject(s)
Ectodermal Dysplasia , Chromosomes, Human, Pair 13/genetics , Diagnosis, Differential , Ectodermal Dysplasia/etiology , Ectodermal Dysplasia/physiopathology , Genes, Dominant , Humans , Keratins , Prognosis
20.
[Rieger syndrome].
Ishikiriyama, S.
Ryoikibetsu Shokogun Shirizu ; (30 Pt 5): 231-3, 2000.
Article in Japanese | MEDLINE | ID: mdl-11057209

Subject(s)
Abnormalities, Multiple , Eye Abnormalities , Nuclear Proteins , Tooth Abnormalities , Umbilicus/abnormalities , Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Chromosomes, Human, Pair 13/genetics , Chromosomes, Human, Pair 4/genetics , Diagnosis, Differential , Eye Abnormalities/genetics , Eye Abnormalities/physiopathology , Genes, Dominant , Homeodomain Proteins/genetics , Humans , Mutation , Paired Box Transcription Factors , Prognosis , Syndrome , Tooth Abnormalities/genetics , Tooth Abnormalities/physiopathology , Transcription Factors/genetics , Homeobox Protein PITX2
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