Schwartz-Lelek syndrome

07/01/2022 - "The first case was diagnosed with craniometaphyseal dysplasia, which was relieved after giving a low-calcium diet. "
05/01/2016 - "Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9. Our study revealed that obvious biochemical abnormality and rickets-like features might present as uncommon characteristics in CMD patients, and the calcium and calcitriol supplementation could alleviate biochemical abnormalities. "

10/01/2020 - "Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia."
10/26/2016 - "Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia."

04/01/1988 - "Treatment of craniometaphyseal dysplasia with calcitriol."
05/01/2016 - "Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9. Our study revealed that obvious biochemical abnormality and rickets-like features might present as uncommon characteristics in CMD patients, and the calcium and calcitriol supplementation could alleviate biochemical abnormalities. "

09/01/2023 - "Human and murine studies have shown that mutations of Cx43 lead to oculodentodigital dysplasia and craniometaphyseal dysplasia, both conditions associated with abnormalities in the skeleton. "

02/01/1996 - "A lack of expression of the vacuolar proton pump has been observed in osteoclasts of a patient with craniometaphyseal dysplasia. "
01/01/1993 - "Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump."

03/01/2010 - "We propose that this craniometaphyseal dysplasia mutation causes a loss of ANKH protein expression and activity in the plasma membrane as a result of aberrant intracellular protein trafficking."
10/24/2018 - "Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and widened metaphyses in long bones. "
10/24/2018 - "Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia."

12/01/2006 - "Craniometaphyseal dysplasia mutations do not transport pyrophosphate and cannot rescue the defects of Ank null mice. "
04/01/2010 - "Craniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in ANKH, which encodes a putative pyrophosphate transporting membrane protein. "

12/01/2006 - "Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations."

12/01/2006 - "Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations."

04/01/1988 - "Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin."

12/01/2023 - "Transmastoid Facial Nerve Decompression for Craniometaphyseal Dysplasia."
02/01/2008 - "Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia."
10/01/1997 - "Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report."
10/01/1994 - "We have described a case of craniometaphyseal dysplasia in which decompression of bilateral optic canals for treatment of threatened damage of the optic nerve resulted in bilateral visual loss. "
10/01/1994 - "Unsuccessful consequence of optic canal decompression for a case of craniometaphyseal dysplasia."

01/01/2020 - "Cochlear Implantation in Craniometaphyseal Dysplasia."
01/01/2020 - "Describe the first case of cochlear implantation (CI) for auditory rehabilitation of a patient with craniometaphyseal dysplasia (CMD) and progressive mixed hearing loss. "

05/01/1992 - "There is no therapy of craniometaphyseal dysplasia."

04/01/2013 - "The patient recovered without complications from the staged surgical procedures, and developed partial return of function of both facial nerves postoperatively, with symmetric House-Brackmann grades of II-III. Despite its technical difficulty in the setting of this particular disorder, facial nerve decompression may be appropriate in the setting of acute facial palsy in craniometaphyseal dysplasia, with the potential for return of function. "

12/01/2021 - "Simultaneous LeFort III and LeFort I Osteotomies in Craniometaphyseal Dysplasia."