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 [dumas.ccsd.cnrs.fr]

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]

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

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]

Definition Platybasia (PTB) is known as the skull bone anomaly consisting of the flattening of the base of the skull. [institutchiaribcn.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]

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]

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

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 is a rare condition indeed, defined as the absence of the flat bones of the skull, as well as the associated… Acalvaria defined as absent skull bones, is [semanticscholar.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]

Dacryocystocele

In a patient with nasal obstruction, the differential diagnosis includes masses such as haemangioma, glioma, encephalocele, and dermoid cyst, as well as congenital bone anomalies [scielo.br]

MRI can help characterise the contents of the lesion, while TC is used to visualise bone anomalies affecting the nasolacrimal duct.(2020 Shashy RG, Durairaj VD, Holmes JM, [scielo.br]

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]

Congenital Sodium Diarrhea

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

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]

Diphallus - Rachischisis - Imperforate Anus

[…] is actually a defect in the occipital bone and rachischisis of the posterior vertebral arches leading to herniation of neural tissue. close throughout the length of the body [sobdartho.com]

Though MRI can be used to diagnose anomalies in the fetus, it is limited [24,25]. [itmedicalteam.pl]

[…] rach- spine Greek ῥάχις, ῥάχεως (rhákhis, rhákheōs) rachipagus, rachis, rachischisis, rhachiodont, rhachis rhag-, rheg- rend, tear Greek ῥηγνύναι (rhēgnúnai). cause of the anomaly [sobdartho.com]

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]

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]

Congenital Heart Defects and Skeletal Malformations Syndrome

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]

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. [rareguru.com]

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

[…] fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. [rareguru.com]

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]

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]

[…] 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]

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]

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]

Short Stature - Wormian Bones - Dextrocardia Syndrome

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]

[…] 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]

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]

Amelogenesis Imperfecta Hypomaturation Type

anomalies were reported. [link.springer.com]

[…] medical problems typically associated with AI such as nephrocalcinosis, platyspondylie, short stature, rod-cone retinal atrophy, no epilepsy or dementia, oncholysis, or bone [link.springer.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]

Fanconi Anemia Complementation Group P

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

[…] radius (one of the forearm bones) -skeletal anomalies of the hips, spine, or ribs -kidney structural problems -skin pigmentation (called café au lait spots) -small head - [rarediseases.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 [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]

Fibro-Adipose Vascular Anomaly

Radiography Plain radiography is usually normal, but can demonstrate reactive bone changes adjacent to fibroadipose vascular anomaly. [radiopaedia.org]

Talonavicular Coalition

Bone anomalies of the tarsus in relation to peroneal spastic flat foot. J Bone Joint Surg Br Vol. 1954;36:530–542. [PubMed] [Google Scholar] 8. [ncbi.nlm.nih.gov]

Bone anomalies of the tarsus in relation to “peroneal spastic flat foot”. J Bone Joint Surg Br. 1954; 36:530-542. 2 Newman JS, Newberg AH. [radsource.us]

J Bone Joint Surg 1957; 39-b: 520-523. [ Links ] 12. DelSel JM, Grand NE. Cubo-navicular synostosis. A rare tarsal anomaly. [scielo.isciii.es]

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 2

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

Fanconi Anemia Complementation Group B

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

Bone marrow failure (BMF) occurs at a median age of 7 years, developing in 90% of patients by 40 years of age. [orpha.net]