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1. 小頭症に対する臨床遺伝学的アプローチ microcephaly a clinical genetics approach
2. 胎児性アルコールスペクトラム障害：臨床的特徴および診断 fetal alcohol spectrum disorder clinical features and diagnosis
3. ペルオキシソーム病 peroxisomal disorders
4. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
5. 寄生虫妄想症の治療 treatment of delusional parasitosis

English Journal

Digitotalar dysmorphism: Molecular elucidation.

Vorster AA1, Beighton P, Ramesar RS.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.S Afr Med J.2016 Feb 2;106(3):253-5. doi: 10.7196/SAMJ.2016.v106i3.10134.
Dominantly inherited digitotalar dysmorphism (DTD), which is characterised by flexion contractures of digits and 'rocker-bottom' feet due to a vertical talus, was first described in a South African family of European stock in 1972. We review the clinical manifestations and document the molecular bas
PMID 26915936

Digitotalar dysmorphism with craniofacial and other new associated abnormalities.

Kantaputra PN1, Chalidapong P, Visrutaratna P.
Clinical dysmorphology.Clin Dysmorphol.2001 Jul;10(3):171-5.
We report digitotalar dysmorphism in a grandfather, father, and a daughter. All the affected members had clasped thumbs. The father had a short stature, large zygomatic arch and a flat mandibular condyle. The newly recognized findings found in the affected girl were large maxillary deciduous central
PMID 11446408

Congenital vertical talus: classification with 69 cases and new measurement system.

Hamanishi C.
Journal of pediatric orthopedics.J Pediatr Orthop.1984 May;4(3):318-26.
Sixty-nine cases of congenital vertical talus (CVT) were classified into five groups in association with (1) neural tube defects or spinal anomalies, (2) neuromuscular disorders, (3) malformation syndromes, (4) chromosomal aberrations, and (5) idiopathic CVT unassociated with any of the systemic con
PMID 6736236

Related Links

Digitotalar dysmorphism - RightDiagnosis.com

Digitotalar dysmorphism symptoms, causes, diagnosis, and treatment information for Digitotalar dysmorphism (Sallis-Beighton syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...

Orphanet: Digitotalar dysmorphism

Summary Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or ...