Name Brachyolmia Type 1, Hobaek Type Synonyms BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK, SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA Classification unclassified Phenotypes Abnormality of the eye ; Autosomal recessive inheritance ; Back pain ; Disproportionate [mousephenotype.org]

Pain and numbness in the extremities are common presenting symptoms. Headache and neck pain are also frequent complaints. [rrnursingschool.biz]

Broderick, MD, ASSR Member Excerpta Extraordinaire Excerpta A 27 year-old man presented with a 1 year history of progressive bilateral lower extremity pain and numbness radiating from his lower back. [theassr.org]

Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound [books.google.ro]

HSN2A 201300 Genetic Test Registry Neuropathy, Hereditary Sensory and Autonomic, Type III Dysautonomia, Familial Hsan III Riley-Day Syndrome HSAN3 DYS 223900 Genetic Test Registry Neuropathy, Hereditary Sensory and Autonomic, Type V Insensitivity To Pain [ukgtn.nhs.uk]

More recently, clinicians from Western Europe have described a girl of Turkish origin with PAPSS2 sequence variants who suffered from precocious puberty and bone problems, although her skeletal defects were far milder than those found in other people [riken.jp]

puberty-obesity syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-spastic [se-atlas.de]

Ribosomopathy hsa03008 Ribosome biogenesis in Eukaryotes H00519 Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk [kegg.jp]

The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism. [checkorphan.org]

The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. [diseaseinfosearch.org]

The Toledo type: probably identical to the Hobaek type with regard to the skeletal and vertebral changes, but patients also have abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities. [streetdirectory.com]

The Toledo type is distinguished by corneal opacities, but it is otherwise identical to the Hobaek type; Maroteaux type was subsequently shown to also have epiphyseal involvement and it is classified in a different group in the nosology of skeletal disorders [ojrd.biomedcentral.com]

Brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (271630) forms and is inherited in an autosomal dominant fashion. [checkorphan.org]

{9:Rock et al. (2008)} provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. [diseaseinfosearch.org]

Being aware of the initial skeletal changes may facilitate early diagnosis of PAPSS2-related skeletal dysplasias. KEYWORDS: Autosomal recessive brachyolmia; Dumbbell deformity; PAPSS2; Platyspondyly; Skeletal dysplasia [ncbi.nlm.nih.gov]

Nearly 300 disorders are included in this entity; most of them are heritable diseases. 2 Although most of the diseases are rare, skeletal dysplasia as an entity is common. [mhmedical.com]

Delineation of Skeletal Dysplasias The discovery of new skeletal dysplasias has been an ongoing process since the 1940s. [musculoskeletalkey.com]

Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent. [unboundmedicine.com]

The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. [ncbi.nlm.nih.gov]

Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. [checkorphan.org]

Flattened proximal radial epiphyses ; Intervertebral space narrowing ; Kyphosis ; Osteopenia ; Pectus carinatum ; Sclerotic foci of metaphyses of the elbow ; Scoliosis ; Short femoral neck ; Short iliac bones ; Short long bone ; Short neck ; Squared-off platyspondyly [mousephenotype.org]

Name Brachyolmia Type 1, Hobaek Type Synonyms BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK, SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA Classification unclassified Phenotypes Abnormality of the eye ; Autosomal recessive inheritance ; Back pain ; Disproportionate [mousephenotype.org]

behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity [se-atlas.de]

Flat acetabular roof ; Flattened proximal radial epiphyses ; Intervertebral space narrowing ; Kyphosis ; Osteopenia ; Pectus carinatum ; Sclerotic foci of metaphyses of the elbow ; Scoliosis ; Short femoral neck ; Short iliac bones ; Short long bone ; Short [mousephenotype.org]

BRACHYOLMIA TYPE 3; BCYM3 Is also known as brachyolmia, autosomal dominant, brachyrachia;brachyolmia type 3 Related symptoms: Autosomal dominant inheritance Short stature Scoliosis Brachydactyly Short neck SOURCES: SCTID GARD ORPHANET OMIM MONDO More [mendelian.co]

[…] anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse hair-brachydactyly [se-atlas.de]

/ Paoletti, V. 2003 391 15-Month-Old Infant With Failure to Thrive, Hepatomegaly, Increased Liver Enzymes, Hypoproteinemia, and Seizures Barness, L. A. / Patterson, R. F. / Barness, E. G. / Nora, F. E. / Chamyan, G. / Lacson, A. / Pomerance, H. [tib.eu]

PDCD10 Cerebral cavernous malformations PEX7 Refsum disease, Rhizomelic CDP type 1 PHEX Hypophosphatemic rickets PHF6 Borjeson-Forssman-Lehmann syndrome PIEZO2 Distal arthrogryposis, Marden-Walker syndrome PIGA Multiple congenital anomalies-hypotonia-seizures [genda.com.ar]