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The Journal of Bone and Joint Surgery.... Feb 2007
Review
Topics: Dysostoses; Humans; Somites; Spinal Curvatures; Spine
PubMed: 17272424
DOI: 10.2106/JBJS.F.00486 -
European Journal of Medical Genetics Apr 2022Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial... (Review)
Review
Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial regulator (BMPER). There is a continuum of clinical presentation, with DSD at the severe end of the spectrum whilst ISD is towards the milder end. Both are caused due to pathogenic variants in BMPER. Previous studies have reported 20 patients from 13 families. Common features in the cohort reported so far are spinal and rib anomalies but other findings illustrate phenotypic variation. Survival ranges from death within the neonatal period to alive and well at 19 years. We present three siblings with variable phenotype, adding to the evidence for a single definition of BMPER-related skeletal dysplasia. We highlight the need for ongoing care planning and guarded prognostication, with regular review by clinical teams.
Topics: Carrier Proteins; Dysostoses; Humans; Phenotype; Spine
PubMed: 35240322
DOI: 10.1016/j.ejmg.2022.104470 -
International Journal of Oral and... Dec 2000Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers,... (Review)
Review
Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We present a report of two cases of pyknodysostosis with evidence of long bone fractures and chronic suppurative osteomyelitis of the jaws in one of the cases. Some of the specific oral and radiological findings that are consistent with pyknodysostosis are reported, along with a brief review of the literature.
Topics: Adult; Chronic Disease; Cleidocranial Dysplasia; Diagnosis, Differential; Dwarfism; Dysostoses; Fractures, Spontaneous; Humans; Male; Mandibular Diseases; Mandibular Fractures; Osteomyelitis; Osteopetrosis; Periodontal Abscess
PubMed: 11202325
DOI: No ID Found -
Pediatric and Developmental Pathology :... 2022Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is...
Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys. We present the case of a child of non-consanguineous parents who died at 2 months of age in our center. Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periventricular leukomalacia. After genetic study, the diagnosis of diaphanospondylodysostosis was confirmed. A previously undescribed germinal mutation in the BMPER gene (c.576 + 2dupT) was found.
Topics: Carrier Proteins; Child; Craniofacial Abnormalities; Dysostoses; Female; Humans; Mutation; Pregnancy; Ribs; Spine
PubMed: 34877902
DOI: 10.1177/10935266211056812 -
American Journal of Medical Genetics Sep 1991The Jarcho-Levin syndrome is a condition manifested by vertebral body and related rib malformations. We report on four new cases and review 57 cases from the literature.... (Review)
Review
The Jarcho-Levin syndrome is a condition manifested by vertebral body and related rib malformations. We report on four new cases and review 57 cases from the literature. Analysis of the 61 cases suggests that there are two major subtypes (spondylocostal dysostosis and spondylothoracic dysostosis) with different survival rates, associated malformations, and inheritance patterns. Individuals with spondylothoracic dysostosis have vertebral body malformations and ribs which flare in a fanlike pattern but which are not significantly malformed. This is an autosomal recessive trait, and the patients have a higher mortality rate and greater incidence of neural tube defects. Individuals with spondylocostal dysostosis have vertebral malformations, frequent dramatic rib malformations, and short stature, but do not have a fanlike thoracic configuration. Most cases of spondylocostal dysostosis are inherited in an autosomal recessive fashion, although in a few families it is a dominant trait which is correlated with better survival. Respiratory compromise previously accounted for the high mortality in these conditions, but improvements in respiratory technology have increased survival. Appropriate classification of these similar phenotypes will improve counseling concerning recurrence risk, management, and prognosis.
Topics: Abnormalities, Multiple; Dysostoses; Female; Humans; Infant, Newborn; Male; Prenatal Diagnosis; Radiography; Ribs; Spine; Syndrome
PubMed: 1951427
DOI: 10.1002/ajmg.1320400304 -
American Journal of Diseases of... May 1990
Topics: Abnormalities, Multiple; Child; Dysostoses; Humans; Intellectual Disability; Male; Syndrome
PubMed: 2330926
DOI: 10.1001/archpedi.1990.02150290071031 -
American Journal of Medical Genetics Aug 1988We report on a 13-yr-old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent... (Review)
Review
We report on a 13-yr-old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in greater than 75% of cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal maturation and mental retardation. Results of chromosome studies have been normal. An autosomal dominant inheritance pattern was reported in two families. Maternal and paternal ages were 2 and 3 yr, respectively, above the average age of the general parent population, which suggests that advanced parental age may be a factor in the cause of this condition. A characteristically abnormal MCPP was found in our patient and in 16 additional cases studied from the literature. A mean MCPP was developed for the syndrome. MCPP analysis may be useful as a diagnostic tool in patients suspected to have acrodysostosis.
Topics: Adolescent; Dysostoses; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Male; Metacarpus; Syndrome
PubMed: 3055990
DOI: 10.1002/ajmg.1320300416 -
Pediatrics Feb 1955
Topics: Bone and Bones; Congenital Abnormalities; Dysostoses; Facial Bones; Humans
PubMed: 13236439
DOI: No ID Found -
Journal of the Canadian Association of... Jun 1963
Topics: Dysostoses; Enchondromatosis; Humans; Osteochondrodysplasias
PubMed: 13973791
DOI: No ID Found -
The British Journal of Radiology Oct 1963
Topics: Achondroplasia; Child; Dysostoses; Foot Diseases; Hand Deformities; Humans; Intellectual Disability; Jews; Osteochondrodysplasias
PubMed: 14067662
DOI: 10.1259/0007-1285-36-430-761