Results 51 to 60 of about 1,628 (156)
Skeletal Dysplasia During the Bronze Age in Northeast Thailand (3000–2500 BP)
International Journal of Osteoarchaeology, Volume 36, Issue 2, Page 318-324, March/April 2026.ABSTRACT This study examines a case of skeletal dysplasia in an adult male (B290) from the Bronze Age at the site of Ban Non Wat, Northeast Thailand. Skeletal dysplasia, a group of genetic disorders affecting bone and cartilage growth, presents diagnostic challenges due to overlapping clinical features.
Nuttheera Kaoboriboon +5 more
wiley +1 more source
The Hip in Osteochondrodysplasias: General Rules for Diagnosis and Treatment
, 2009 The management of hip pathology in osteochondrodysplasia (skeletal dysplasia) is complex and a multidisciplinary approach is vital. Thorough clinical assessment and knowledge of the natural history of the different disorders provides the basis for this.
B. D. Sheridan +2 more
core +1 more source
An orthodontic perspective on Larsen syndrome
BMC Oral Health, 2021 Background Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. In addition to large-joint dislocations, craniofacial anomalies are typical characteristics.
Madoka Yasunaga +3 more
doaj +1 more source
, 2000 Cantu syndrome (CS) is characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial appearance; autosomal recessive inheritance has been postulated. We report on a Mexican family with CS; the affected members are the
Lazalde, B. +4 more
core +1 more source
Frontiers in Genetics, 2023 Smith McCort (SMC) dysplasia is a rare, autosomal recessive, osteochondrodysplasia that can be caused by pathogenic variants in either RAB33B or DYM genes.
Milena Dimori +10 more
doaj +1 more source
Overlap between Majewski and Hydrolethalus syndromes: A report of two cases
, 1992 We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal ...
Shubha Phadke +13 more
core +1 more source
, 1995 Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous parents, presented dwarfism, peculiar facies, with blepharophimosis, mongoloid slanted eyes, abundant eyebrows and eyelashes, harsh voice and short hands
Cantu,J. M.
core +1 more source
Journal of Oral and Maxillofacial Radiology, 2013 Pyknodysostosis is an extremely rare autosomal recessive genetic osteosclerotic disorder caused by cathepsin K deficiency leading to decrease in the bone turnover.
Dharmraj Meena +3 more
doaj
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome
Indian Journal of Dental Research, 2017 Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features.
Preetha Balaji, S M Balaji
doaj +1 more source
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB [PDF]
, 2006 Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the ...
Wilson, L C +35 more
core +1 more source