Shortened Extremities: Causes & Reasons

Possible Causes for Shortened Extremities

[…] of the extremities. [medical-genetics.de]

This disorder is characterized by extreme shortening of the long bones in the arms and legs, resulting in very short stature. [diseaseinfosearch.org]

Also noted was a rhizomelic and mesomelic shortening of all extremities with palpable osseous deformities secondary to enchondromas, especially of the shoulders, hands, and [medical-dictionary.thefreedictionary.com]

Congenital Disorder of Glycosylation Type 2M

Mendelian Rare Diseases CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M Slc35a2-cdg Description SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick[…] [mendelian.co]

Amelia and Terminal Transverse Hemimelia

Introduction The spectrum of congenital lower extremity shortening is diverse and can involve any of the leg bones and joints. [pubs.rsna.org]

In more subtle cases, the only clinical feature may be a limb that is mildly shorter than the contralateral extremity. [musculoskeletalkey.com]

Figure 19b Conclusion PFFD and FH are the most common causes of congenital lower extremity shortening. [pubs.rsna.org]

Acromesomelic Dysplasia Type Hunter-Thomson

Note that the shortening of the forearms and extremities is less obvious than in fig1A (top row). (B, C) X rays at the age of 2. [jmg.bmj.com]

Indeed, growth failure was moderate (−3 and −2.5 SD respectively), shortening of the extremities was milder, and the vertebrae were almost normal. [jmg.bmj.com]

Fibular Hemimelia

Shortening of the extremity is obvious at birth with leg-length discrepancy. [ncbi.nlm.nih.gov]

RESEARCH Fibular Hemimelia: A Case Report Abstract Fibular hemimelia is the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities [ajol.info]

Fibular hemimelia is the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities. [ncbi.nlm.nih.gov]

Desbuquois Dysplasia Type 1

extremities (arms and legs). [rarediseases.info.nih.gov]

The signs and symptoms of Desbuquois syndrome may vary in nature and severity and may include: Intrauterine growth retardation; Short stature with shortened extremities (arms [rareguru.com]

The signs and symptoms of Desbuquois Syndrome may vary in type and severity, and may include: Intrauterine growth retardation Short stature with shortened extremities (arms [dovemed.com]

Tibial Hemimelia - Cleft Lip/Palate

Epidemiology Tibial hemimelia is extremely rare, occurring in only one out of one million live births. [devel.pacs.de]

This type of tibial hemimelia is extremely rare. Type IV. [orthoinfo.aaos.org]

Tibial hemimelia or tibial deficiency is an uncommon abnormality which can range from isolated mild shortening to complete tibial absence. [devel.pacs.de]

Acromesomelic Dysplasia Type Campailla-Martinelli

The specimen (Romito 2) exhibits features typical of chondrodysplasia, including a high domed skull, compressed cranial base, and in the postcranial skeleton extremely shortened [deepdyve.com]

shortening of the extremities, very short fingers, and nubbin-like toes. [clinicalimagingscience.org]

The radial head might be dislocated.[8] Other forms of mesomelic shortening such as Du pan syndrome are characterized by acromesomelic dysplasia associated with mesomelic [clinicalimagingscience.org]

Short Rib-Polydactyly Syndrome

The prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. [ncbi.nlm.nih.gov]

We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. [ncbi.nlm.nih.gov]

The diagnostic characteristic of SRPS type II is extreme shortening of the tibia in addition to short ribs in this type of short-limbed dwarfism. [disorders.eyes.arizona.edu]

Desbuquois Dysplasia Type 2

The signs and symptoms of Desbuquois syndrome may vary in nature and severity and may include: Intrauterine growth retardation; Short stature with shortened extremities (arms [rareguru.com]

shortened trunk length, and narrow thorax). [accesspediatrics.mhmedical.com]

Diagnosis Clinical features (micromelia, limited joint mobility associated with cardiac and neurological anomalies) and radiological features (symmetrical short extremities [accesspediatrics.mhmedical.com]

Chondrodystrophy

Patients are dwarfed, with normal trunks and shortened extremities. [medical-dictionary.thefreedictionary.com]

Type 1 (short limb dysplasia), the more common of the two, is characterised by a long trunk and extremely shortened extremities. [en.wikipedia.org]

Type 2, short-trunk dysplasia, is characterised by a shortened trunk and normal size extremities. [en.wikipedia.org]

Short Rib-Polydactyly Syndrome Type Beemer-Langer

We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. [ncbi.nlm.nih.gov]

shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. [scipers.com]

Elçio&gcaron;lu, Nursel; Karatekin, Güner; Sezgin, Betül; Nuho&gcaron;lu, Asiye; Cenani, Asim 1996-09-01 00:00:00 We present premature female twin fetuses with concordant extremely [deepdyve.com]

Hemimelia

Shortening of the extremity is obvious at birth with leg-length discrepancy. [ajol.info]

shortening is part of a group of infrequent disorders, together with proximal femoral deficiency, tibial and fibular hemimelia. [pesquisa.bvsalud.org]

The variety of congenital lower extremity shortening is wide-ranging and can include any leg bones and joints. [cureus.com]

Mandibuloacral Dysplasia with Type B Lipodystrophy

Minor criteria were (generalized or partial) lipoatrophy of the extremities, joint contractures and shortened phalanges. [pesquisa.bvsalud.org]

Fibular Dimelia-Diplopodia Syndrome

At admission, a left upper extremity, not shortened, with abducted hand and eight fingers was found. [ncbi.nlm.nih.gov]

Bent Bone Dysplasia

Step I: Assessment of Disproportion Micromelia is overall shortening of the extremities. Rhizomelia is relative shortening of the femurs and humeri. [clinicalgate.com]

Acromelia: Shortening of the distal segment (hands or feet). Micromelia: Shortening of all segment of the extremities. Campomelia: Bowing of the long bones. [perinatology.com]

[…] of the entire extremity This is the most common lethal skeletal dysplasia that is characterized by extremely short limbs with folds of extra skin on the arms and legs This [quizlet.com]

Phocomelia

The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. [medigoo.com]

Note the shortened lower extremities, known as phocomelia. [library.med.utah.edu]

[…] pho·co·me·lia | \ ˌfō-kə-ˈmē-lē-ə \ Medical Definition of phocomelia : a congenital deformity in which the limbs are extremely shortened so that the feet and hands arise close [merriam-webster.com]

Rhizomelic Chondrodysplasia Punctata Type 2

Abstract Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of the upper extremities, typical dysmorphic [ncbi.nlm.nih.gov]

— Symmetrical shortening of both the trunk and extremities and coarse facial features are the most important morphologic findings. [semanticscholar.org]

[…] of bones in upper extremities and femurs; and • Joint contractures. [secure.ssa.gov]

Congenital Absence of Both Lower Leg and Foot

The average length of foot shortening was 2 ± 1 cm. We also analyzed the magnitude of lower extremity shortening in children with CFJLL before epithesis. [journals.eco-vector.com]

Overall, the right lower extremity is noted to be 5 cm. shortened when compared to the contralateral normal extremity. [gait.aidi.udel.edu]

" [1] [2] It is the shortening of the fibula at birth, or the complete lack thereof. [en.wikipedia.org]

Chondrodysplasia Punctata

The disease includes shortening of the extremities, nanism, and skin or eye disorders. [jstage.jst.go.jp]

In the conradi type; diffuse spine stippling and mildy symmetric or asymmetric extremity shortening with diffuse stippling of epiphyses. [advancedradteaching.com]

The epiphyseal and a metaphyseal dysplasia is severe, resulting in marked proximal shortening of extremities and secondary flexion contractures of the arms and legs. [healio.com]

Asphyxiating Thoracic Dysplasia

[…] of extremities relative to trunk Prenatal ultrasonography may reveal the following: Detection of affected second-trimester and third-trimester fetuses of at-risk families [emedicine.medscape.com]

Shortening of extremities involving an entire limb: eg achondrogenesis, fibrochondrogenesis, dys-segmental dysplasia, Roberts' syndrome. [patient.info]

Jeune syndrome Ellis–van Creveld syndrome SRPS type III Long bones Moderately shortened Shortened (rhizomelia) Severely shortened Ribs Short, horizontal Extremely short, horizontal [fetalultrasound.com]

Short Rib-Polydactyly Syndrome Type Majewski

The diagnostic characteristic of SRPS type II is extreme shortening of the tibia in addition to short ribs in this type of short-limbed dwarfism. [disorders.eyes.arizona.edu]

[…] all four extremities, with extreme reduction of tibial bone length. [medical-dictionary.thefreedictionary.com]

They all have extremely shortened bones of the arms, legs, and ribs. They all also have a small, constricted chest. [encyclopedia.com]

Saldino-Noonan Syndrome

The family history was only significant for mother’s half-sister’s son with isolated fetal shortening of the lower extremities noted on prenatal ultrasound. [degruyter.com]

The proximal upper and lower extremities appeared severely shortened with seven digits on the left hand, six digits on the right, seven toes on the left foot with syndactyly [degruyter.com]

Pseudoachondroplasia

Clinically characterised by normal head size and facial features (Cf Achondroplasia), disproportionately long trunk, rhizomelic shortening of extremities, short stubby fingers [neuroradiologycases.com]

[…] of the extremities is evident; - dwarfism can easily be differentiated from achondroplasia by the normal face and skull, and the absence of interpedicular narrowing of the [wheelessonline.com]

[…] the most severe); - Clinical Features: - condition is not recognized at birth, but growth retardation is apparent by the age of 2 or 3 years; - at that time, rhizomelic shortening [wheelessonline.com]

Mosaic Trisomy 8

[…] such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches [ncbi.nlm.nih.gov]

[…] examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities [ncbi.nlm.nih.gov]

Rhizomelic Chondrodysplasia Punctata Type 1

On the skeletal survey, the hallmark findings are: rhizomelic shortening of the extremities metaphyseal splaying punctate cartilaginous calcifications, which mostly resolve [radiopaedia.org]

His birthweight was 2459 g (10-25th percentile), length was 42.5 cm ( A skeletal survey showed rhizomelic shortening of extremities. [indianpediatrics.net]

[…] of bones in upper extremities and femurs; and • Joint contractures. [secure.ssa.gov]

Bellini-Chiumello-Rinoldi Syndrome

The upper extremities are less affected, but significant shortening of hand and finger bones can be found. [accessanesthesiology.mhmedical.com]

Overall, the upper extremities are much less affected with only mild deformation of the long bones. [accesspediatrics.mhmedical.com]

However, the shortening of the hand and finger bones (brachydactyly, brachymesophalangy, cone-shaped phalangeal, and metacarpal epiphyses with irregular, bowed, and shortened [accesspediatrics.mhmedical.com]

Rhizomelic Chondrodysplasia Punctata Type 3

[…] of bones in upper extremities and femurs; and • Joint contractures. [secure.ssa.gov]

His birthweight was 2459 g (10-25th percentile), length was 42.5 cm ( A skeletal survey showed rhizomelic shortening of extremities. [indianpediatrics.net]

In milder cases the epiphyses become normal with shortening of the femur and humerus. The proximal shortening is more frequent in the upper extremities. [ijri.org]

Desbuquois Dysplasia

extremities (arms and legs). [rarediseases.info.nih.gov]

The signs and symptoms of Desbuquois syndrome may vary in nature and severity and may include: Intrauterine growth retardation; Short stature with shortened extremities (arms [rareguru.com]

There is rhizomelic shortening in the upper extremities with normal ranges of motion at the elbows. The hands and wrist showed marked ligamentous laxity. [ncbi.nlm.nih.gov]

Greenberg Dysplasia

Fetal examination showed severe hydrops, extremely shortened edematous limbs, and postaxial polydactyly on both hands. [ncbi.nlm.nih.gov]