Bone Anomalies: Causes & Reasons

Possible Causes for Bone Anomalies

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]

Oculootoradial Syndrome

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

[…] dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive [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]

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]

Anonychia Congenita Totalis

anomalies. [genome.jp]

} } 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]

Total anonychia congenita or hyponychia congenita, a rare autosomal dominant disorder in which all the finger nails and toe nails are absent without significant bone anomalies [japi.org]

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]

Acalvaria

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

Raines Medicine 2006 Primary acalvaria is a rare congenital anomaly in which the flat bones of the cranium, dura mater, and associated muscles are absent. [semanticscholar.org]

Discussion Acalvaria is a rare congenital anomaly characterized by absent flat bones of the cranial vault with normal base of skull, facial bones and cranial contents [ 1 [labome.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]

The critical periods of these anomalies were earlier than those of other anomalies. [onlinelibrary.wiley.com]

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

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]

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]

Ectrodactyly of the Lower Limbs - Congenital Heart Defect - Micrognathia

Orthopade. 2001 Apr; 30(4): 226-30 Larson,-A-R; Josephson,-K-D; Pauli,-R-M; Opitz,-J-M; Williams,-M-S Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb [malattierare.regione.veneto.it]

Secundum Atrial Septal Defect with Various Cardiac and Non-Cardiac Defects

Congenital Heart Defects and Skeletal Malformations Syndrome

Congenital Sodium Diarrhea

Please enable JS and disable any ad blocker [cairn.info]

Lung Agenesis - Heart Defect - Thumb Anomalies Syndrome

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]

Frontonasal Dysplasia - Phocomelic Upper Limbs

Fanconi Anemia Complementation Group N

Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. [ncbi.nlm.nih.gov]

[…] of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies [ncbi.nlm.nih.gov]

Macrognathism

micrognathia bone anomalies and cardiac malformation. [link.springer.com]

The partial trisomy 10q of the proband had induced mental retardation, severe retardation of growth, ocular anomalies, agenesis of the palate, low implantation of the ears [link.springer.com]

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"[4] and "Short stature wormian bones dextrocardia"[1] References[edit] ^ a b c "Short stature wormian bones dextrocardia". [en.wikipedia.org]

Ischio-Vertebral Syndrome

410730009 Disorder of bone development 371521007 Congenital anomaly of back 363025000 Congenital anomaly of musculoskeletal system 73573004 Disorder of bone 76069003 Finding [findacode.com]

[…] new information about "Ischio-vertebral syndrome" New changes, new therapies, new information and news Definition Ischio-vertebral syndrome is a very rare, poorly-defined bone [retkebolesti.com]

Very rare poorly-defined bone disease with manifestation of ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients [ncbi.nlm.nih.gov]

Partial Trisomy 1p

micrognathia bone anomalies and cardiac malformation. [link.springer.com]

The partial trisomy 10q of the proband had induced mental retardation, severe retardation of growth, ocular anomalies, agenesis of the palate, low implantation of the ears [link.springer.com]

Drachtman Weinblatt Sitarz Syndrome

At a glance It is a disease characterized by the combination of congenital neurologic anomalies and late-onset bone marrow hypoplasia. [accessanesthesiology.mhmedical.com]

Disease characterized by the combination of congenital neurologic anomalies and late-onset bone marrow hypoplasia. Only two cases have been described. [accessanesthesiology.mhmedical.com]

Congenital ocular anomalies include strabismus, optic nerve hypoplasia, and rotary nystagmus. [accessanesthesiology.mhmedical.com]

Jaffe-Campanacci Syndrome

↑ "Multiple non-ossifying fibromata with extraskeletal anomalies: a new syndrome?". J Bone Joint Surg Br 65 (5): 627–32. November 1983. [handwiki.org]

"Multiple non-ossifying fibromata with extraskeletal anomalies: a new syndrome?". J Bone Joint Surg Br. 65 (5): 627–32. PMID 6643569. [wikiwand.com]

"Multiple non-ossifying fibromata with extraskeletal anomalies: a new syndrome?". J Bone Joint Surg Br. 65 (5): 627–32. PMID 6643569. External links [enhancedwiki.territorioscuola.it]

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]

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]

Suárez-Stickler Syndrome

bone 8447006 Bone density finding 385342005 Congenital anomaly of mouth 128334002 Bone densimetry abnormal 310254004 Disorder of bone development 371521007 Congenital anomaly [findacode.com]

[…] of digestive organ 128332003 Disorder of tooth development 371136004 Skeletal dysplasia 105986008 Bone density below reference range 449781000 Congenital anomaly of skeletal [findacode.com]

[…] disorder of musculoskeletal system 363212003 Congenital anomaly of tooth 422977003 Dentinogenesis imperfecta 196286005 Dysplasia with decreased bone density 254104009 Digestive [findacode.com]

Estren-Dameshek Anemia

The histopathologic features of these temporal bones appears to suggest that congenital anomalies of the inner ear, as well as those of the external and middle ears, would [jamanetwork.com]

Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. [ncbi.nlm.nih.gov]

[…] marrow; (3) minor but multiple anomalies of the middle ear; and (4) hypodevelopment of the hook portion of the cochlea and reduced overall length of the cochlear duct. [jamanetwork.com]

Kozlowski Ouvrier Syndrome

Malformative syndrome characterized by corpus callosum agenesis associated with multiple skeletal anomalies. Bone Dysplasia with Corpus Callosum Agenesis. [accessanesthesiology.mhmedical.com]

Synonym: Bone Dysplasia with Corpus Callosum Agenesis. Incidence One case reported in the literature. [accessanesthesiology.mhmedical.com]

Associated anomalies: Many diseases have been associated with wormian bones. [thefetus.net]

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 [accesspediatrics.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. [rareguru.com]