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Journal of the College of Radiologists... Jun 1962
Topics: Dysostoses; Enchondromatosis; Intellectual Disability; Osteochondrodysplasias
PubMed: 13925064
DOI: 10.1111/j.1440-1673.1962.tb03402.x -
Ophthalmologica. Journal International... Jun 1949
Topics: Dysostoses; Face; Humans
PubMed: 18132907
DOI: No ID Found -
Journal of the Royal Naval Medical... Jul 1946
Topics: Bone Development; Cleidocranial Dysplasia; Dysostoses; Humans
PubMed: 21002698
DOI: No ID Found -
Annales de Radiologie 1964
Topics: Bone Diseases; Child; Dysostoses; Hand Deformities; Intellectual Disability; Osteochondrodysplasias; Radiography
PubMed: 14140678
DOI: No ID Found -
Proceedings of the Royal Society of... Jan 1951
Topics: Bone and Bones; Dysostoses; Humans
PubMed: 14808233
DOI: No ID Found -
Indian Pediatrics Aug 2005We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet),...
We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
Topics: Child, Preschool; Chromosome Disorders; Dysostoses; Epiphyses; Foot Deformities, Congenital; Genes, Dominant; Hand Deformities, Congenital; Humans; Hyperplasia; Intellectual Disability; Male; Radiography; Syndrome
PubMed: 16141486
DOI: No ID Found -
American Journal of Medical Genetics.... Jul 2003
Topics: Bone Diseases, Developmental; Child; Diagnosis, Differential; Diagnostic Errors; Dysostoses; Female; Follow-Up Studies; Humans; Radiography; Syndrome; Terminology as Topic
PubMed: 12833417
DOI: 10.1002/ajmg.a.20035 -
Tierarztliche Praxis. Supplement 1985Congenital and acquired dysostosis was studied on two litters of Great Danes. One litter of puppies were descendants of dogs with normal hips, the other of dysplastic...
Congenital and acquired dysostosis was studied on two litters of Great Danes. One litter of puppies were descendants of dogs with normal hips, the other of dysplastic animals. Both litters were fed according to NCR standards, the second however ad libitum. One puppy of parents with normal hips demonstrated already with 6 weeks epi- and metaphyseal dysostosis and severe angular deformities of the thoracic and pelvic limbs. Hip dysplasia was diagnosed in three of five puppies from dysplastic dogs. In addition, one puppy showed Wobbler symptoms. The extent and frequency of the alterations were, in comparison to earlier investigations, unexpectedly high. It can be assumed that the examined dogs were genetically predisposed for dysostosis. Our therapeutic procedures are presented.
Topics: Animals; Bone Development; Combined Modality Therapy; Diet Therapy; Dog Diseases; Dogs; Dysostoses; Female; Hip Dysplasia, Canine; Hormones; Male; Osteotomy; Traction
PubMed: 4012775
DOI: No ID Found -
Pediatric and Developmental Pathology :... 2016In 1981, Casamassima and colleagues described an autosomal recessive syndrome of spondylocostal dysostosis associated with anal and urogenital anomalies. Here, I... (Review)
Review
In 1981, Casamassima and colleagues described an autosomal recessive syndrome of spondylocostal dysostosis associated with anal and urogenital anomalies. Here, I describe 1 new fetus who presented with limb-body wall defect as a novel association, compile 7 patients, and review the clinical phenotype of Casamassima-Morton-Nance syndrome. This appears to be the 1st Casamassima-Morton-Nance syndrome fetus with this complex malformation. In light of this manifestation, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with significant clinical variability. Accordingly, it is proposed that Casamassima-Morton-Nance syndrome should be considered in those patients with the combination of a short and asymmetric thorax with rib and vertebral anomalies and scoliosis (spondylocostal-like pattern), anal atresia, absent external genitalia, renal and urethral abnormalities (caudal dysgenesis complex), craniofacial dysmorphic features (mainly flat nose with anteverted nares, low-set/abnormal ears, and short neck), hydrops, oligohydramnios, and a poor clinical outcome.
Topics: Abnormalities, Multiple; Anus, Imperforate; Dysostoses; Female; Fetal Death; Genetic Predisposition to Disease; Gestational Age; Humans; Limb Deformities, Congenital; Male; Phenotype; Pregnancy; Ribs; Spine; Tomography, X-Ray Computed; Urogenital Abnormalities; Young Adult
PubMed: 26367183
DOI: 10.2350/15-08-1682-CR.1 -
British Journal of Plastic Surgery Apr 1979
Topics: Child; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Female; Humans; Hypertelorism; Male; Postoperative Complications; Postoperative Period; Surgery, Plastic; Time Factors
PubMed: 444782
DOI: 10.1016/0007-1226(79)90006-7