Bone Anomalies: Causes & Reasons

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Possible Causes for Bone Anomalies

Congenital Sodium Diarrhea

Branchio-Oculo-Facial Syndrome

Moreover, we present CT scan temporal bone anomalies in the familial cases, related to branchial arch defects, highlighting the importance of radiological investigations for [ncbi.nlm.nih.gov]

Congenital Onychodysplasia

anomalies. [ncbi.nlm.nih.gov]

[…] occurrence, (2) unilateral or bilateral index finger involvement, (3) variability in nail appearance, (4) possible hereditary involvement, and (5) frequently associated bone [ncbi.nlm.nih.gov]

Oculootoradial Syndrome

Other upper limb anomalies include radial ray defects and carpal bone fusion. Upper limbs may be severely malformed. [malacards.org]

Orpha Number: 2307 Definition IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular [malacards.org]

(radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. [retkebolesti.com]

Platybasia

759.9 forehead (see also Anomaly, skull) 756.0 frontal bone (see also Anomaly, skull) 756.0 head (see also Anomaly, skull) 756.0 Pierre Robin 756.0 skull (bone) 756.0 specified [icd9data.com]

[…] platybasia [ plat″ĭ-ba´zhah ] malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior [medical-dictionary.thefreedictionary.com]

(congenital) Q75.8 Accessory (congenital) face bone Q75.8 (s) frontonasal process Q75.8 Agenesis face bones NEC Q75.8 skull (bone) Q75.8 roof of orbit Q75.8 Anomaly, anomalous [icd10data.com]

CHARGE Syndrome

OBJECTIVE: CHARGE syndrome is associated with a variety of temporal bone anomalies and deafness. [ncbi.nlm.nih.gov]

We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve [ncbi.nlm.nih.gov]

MAIN OUTCOME MEASURE(S): Retrospective chart review of temporal bone anomalies associated with CHARGE syndrome, technical nuances of this transcanal approach, and cochlear [ncbi.nlm.nih.gov]

Congenital Absence of Upper Arm and Forearm with Hand Present

Dec 20, 2015 | Posted by in PEDIATRIC IMAGING | Comments Off on Congenital Anomalies of Bone [radiologykey.com]

The classification consists of three major categories: (1) bone and joint anomalies, (2) soft tissue anomalies, and (3) anomalies involving all tissues. [clinicalgate.com]

Radial club hand is a congenital (present at birth) hand anomaly where the radius bone in the arm is missing or underdeveloped, causing the hand to be bent towards the body [gosh.nhs.uk]

Anonychia Congenita Totalis

anomalies. [semanticscholar.org]

Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies. [malacards.org]

} } Published 2004 in Genetic counseling Total anonychia congenita is a very rare disorder in which all the finger nails and the toenails are absent without significant bone [semanticscholar.org]

Congenital Longitudinal Deficiency of the Ulna

A Radial Ray Anomaly (Radial dysplasia, Radial Longitudinal Deficiency) is the underdevelopment or total loss of the radius bone in the forearm. [sickkids.ca]

CT scan for 3 dimensional scapula morphology cervical spine anomalies assess for omovertebral bone MRI associated fibrous interconnections of scapulato spine assess vertebral [posna.org]

What is a Radial Ray Anomaly? [sickkids.ca]

Malformations of the Auditory Ossicles

[…] beforehand, based not only on the results of temporal bone HRCT but also on condition of the anomaly of the EAC, could also be useful. [mydigimag.rrd.com]

The purpose of this study was to define the histopathological changes in the temporal bone of a fetus with trisomy 18 syndrome, a stillborn due to perosplanchnia. [cambridge.org]

Swarz et al. focused on CT imaging of normal anatomy and anomalies of the temporal bone [ 8, 9, 10, 11, 12, 13, 14, 15, 16 ]. [em-consulte.com]

Straight Back Syndrome

A 23-year-old asymptomatic woman was referred to our hospital for further examination of a systolic ejection murmur with fixed splitting of the second heart sound auscultated at the third left sternal border. Initial echocardiography could not detect the cause. Subsequently performed low-dose computed[…] [ncbi.nlm.nih.gov]

Cloverleaf Skull

[…] associated with exophthalmos, and various craniofacial and long-bone anomalies; the condition is sporadic. [medical-dictionary.thefreedictionary.com]

and facial dysostosis of the skull (craniofacial malformations) and long bone anomalies. [brighthub.com]

[…] clo·ver·leaf skull syn·drome [MIM*148800] intrauterine bone dysplasia and synostosis of the coronal and lambdoid sutures of the cranium producing a trilobar head shape, sometimes [medical-dictionary.thefreedictionary.com]

Diastematomyelia

Archive Abstract Author Information Authors In twenty patients with diastematomyelia, fourteen had associated scoliosis, the curvatures being dependent on bone anomalies of [journals.lww.com]

Removal of a bone spur and sectioning of the tight terminal filum did not relieve her left leg and back pain. [ncbi.nlm.nih.gov]

Prior to surgery, any patient with scoliosis and with congenital anomalies of the spine should have myelography. [journals.lww.com]

Treacher-Collins Syndrome

Keywords Temporal Bone Face Reconstruction Craniofacial Anomaly General Endotracheal Anesthesia Structive Operation These keywords were added by machine and not by the authors [link.springer.com]

unspecified Approximate Synonyms Absence of skull bone Absence, cranial bone Anomaly of skull Basilar skull invagination Complex craniosynostosis Congenital abnormality [icd9data.com]

Mesomelia-Synostoses Syndrome

II to V and corresponding carpal/tarsal bones, partial fusion of carpal and tarsal bones, mild bowing of distal part of femora, and mild vertebral anomalies. [rarediseases.info.nih.gov]

[…] fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. [rarediseases.info.nih.gov]

Bone anomalies are progressive and may be undetected on routine ultrasound scan. Genetic counseling MSS is transmitted as an autosomal dominant trait. [rarediseases.info.nih.gov]

Fibular Dimelia-Diplopodia Syndrome

[…] of Clinical Signs and Symptoms Anomalies of bones/skeletal anomalies Bone/osseous hyperplasia Bone/osseous hypoplasia Delayed bone age Diaphyseal anomaly Bowed diaphysis/ [readbag.com]

A survey of carpal and tarsal anomalies. J Bone Joint Surg. 1953;35A:626–642. [PubMed] [Google Scholar] 12. Scheuer L., Black S. Academic Press; London: 2000. [ncbi.nlm.nih.gov]

[…] of bones/skeletal anomalies Abnormal/absent ossification Advanced bone age Bone ankylosis Bone cyst Bone pain Bone tumefaction/swelling www.orphanet.net/ 30 of 39 Thesaurus [readbag.com]

Ischio-Coxo-Podo-Patellar Syndrome

[…] inherited in an autosomal dominant manner[1] Ischiopatellar dysplasia is a rare autosomal dominant[2] disorder characterized by a hypoplasia of the patellae as well as other bone [en.wikipedia.org]

anomalies, especially concerning the pelvis and feet.[3] Signs and symptoms[edit] Individuals affected by ischiopatellar dysplasia commonly have abnormalities of the patella [en.wikipedia.org]

Desbuquois Dysplasia Type 1

together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. [rareguru.com]

It is characterized by short stature, joint anomalies, minor facial malformations, and significant hand anomalies with short metatarsal bones, fusiform and long fingers, and [accessanesthesiology.mhmedical.com]

together with hand anomalies, including short metacarpals (bones of the hand) and fingers with long bones (elongated phalanges) with advanced carpal bone age.[2] Last updated [rarediseases.info.nih.gov]

Short Stature - Wormian Bones - Dextrocardia Syndrome

[…] names include " Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly " and " Short stature wormian bones dextrocardia" ""'Stratton parker [eng.ichacha.net]

Alternative names include "Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly" and "Short stature wormian bones dextrocardia" [882m.com]

Cardiac Anomaly, and Brachycamptodactyly" [5] and "Short stature wormian bones dextrocardia" [1] References [ edit ] ^ a b c "Short stature wormian bones dextrocardia". [wikivisually.com]

Bow Hunter's Stroke

Rotational vertebral artery occlusion from occipital bone anomaly : a rare cause of embolic stroke. Case report. J Neurosurg. 2002;97:1456–1459. [ncbi.nlm.nih.gov]

Van Buchem Disease

Bone anomalies appear in the first decade of life and progress with age (summary by Wergedal et al., 2003). (239100) UniProtKB/Swiss-Prot : 76 Van Buchem disease: VBCH is [malacards.org]

Bone anomalies appear in the first decade of life and progress with age (summary by {14:Wergedal et al., 2003}). [diseaseinfosearch.org]

In most patients, the bone anomalies are symmetric and progressive, starting in the first decade of life. [ 3 ] The clinical complications include cranial nerve paralysis, [ncbi.nlm.nih.gov]

Acalvaria

Radiograph lateral view showing partial bone growth with residual defect. The etiology and pathogenesis of this congenital anomaly remains unknown. [labome.org]

Abstract Acalvaria defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. [ijp.mums.ac.ir]

Acalvaria is usually a fatal anomaly and is rarely discussed in English literature. [ncbi.nlm.nih.gov]

Parachordoma

[…] chordoma and parachordome chondromyxoid fibroma of bone (CMF) myxoid tumors of the jaws odontogenic myxoma Differential diagnosis myxoid lesions / myxoid anomalies clear [humpath.com]

[…] myxoid melanoma (11807440, 9711669) epithelioid hemangioendothelioma with myxoid features image: https://twitter.com/histiocytosisX/status/718542603520765952 myxoid tumors of bone [humpath.com]

Endosteal Hyperostosis

Craniofacial anomalies develop during adolescence. This disease is caused by missense mutations in the LRP5, a co-receptor for Wnt. [malacards.org]

[…] osteosclerosis; Endosteal hyperostosis Description Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is genetic disorder characterized by high bone [genome.jp]

Clinical description Craniofacial anomalies develop during adolescence and include a prominent forehead, wide and deep mandibles, wide nasal root, taurus palatinus and increased [malacards.org]

Congenital Disorder of Glycosylation Type 1H

Besides the late closure of the fontanel, no other skeletal or bone anomalies are reported by a full skeletal survey, except for decreased cranial mineralization and severe [nature.com]

Gingival Fibromatosis 5

anomalies, epilepsy and hepatosplenomegaly are absent. [nature.com]

[…] and cerebellar anomalies, mild mental retardation, mixed hearing loss and facial dysmorphism. [nature.com]

It is believed that the alveolar bone is always not affected.9 However, the patient displays osteofibrosis of maxillary alveolar bone. [nature.com]

CLOVES Syndrome

This disorder causes abnormalities in blood vessels, skin, spine, joints and bones. [texaschildrens.org]

CLOVES syndrome may affect the soft tissue, blood vessels, bone and internal organs. The manifestations are very variable ranging from mild to severe anomalies. [rarediseases.org]

CLOVES stands for Congenital Lipomatous assymetric Overgrowth, Vascular malformations, Epidermal nevi and Skeletal and spinal anomalies. [texaschildrens.org]

Acrofacial Dysostosis Type Rodríguez

and various hand anomalies, predominantly preaxial reduction (absent thumbs). [malacards.org]

0006495 Aqueductal stenosis 0002410 Arrhinencephaly 0002139 Fibular hypoplasia Short calf bone 0003038 Radioulnar synostosis Fused forearm bones 0002974 Sprengel anomaly [rarediseases.info.nih.gov]

[…] by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has material basis in autosomal recessive inheritance. [malacards.org]

Isolated Congenital Auditory Ossicle Malformation

This malformation comprises 12% of congenital temporal bone anomalies ( 3, 4 ). [kjronline.org]

Swarz et al. focused on CT imaging of normal anatomy and anomalies of the temporal bone [ 8, 9, 10, 11, 12, 13, 14, 15, 16 ]. [em-consulte.com]

In: Imaging of the Temporal Bone, 2nd Ed. New York: Thieme MedicalPublishers, 1992:131-4. Valvassori GE, Mafee MF, Carter BL. Congenital anomalies of the temporal bone. [prootology.domino.bg]

Auriculoosteodysplasia

Congenital anomaly of bone and joint Congenital anomaly of cartilage Congenital anomaly of hyoid bone Congenital anomaly of joint Congenital anomaly of musculoskeletal structure [emedcodes.com]

[…] characteristic ear shape, and short stature, Auriculo-osteodysplasia Overview Auriculoosteodysplasia is a rare disorder characterized mainly by abnormal ears and multiple bone [checkorphan.org]

[…] absent • Bone island • Brachydactyly syndrome type E • Certain congenital musculoskeletal deformities • Congenital anomaly of cartilage • Congenital anomaly of hyoid bone [coding-pro.com]