Short-trunk: Causes & Reasons

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Possible Causes for short trunk

Spondylocostal Dysostosis

Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and [ncbi.nlm.nih.gov]

This syndrome is usually diagnosed in newborns with short neck and trunk and short stature. [ncbi.nlm.nih.gov]

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and [ncbi.nlm.nih.gov]

Spondylometaphyseal Dysplasia Type Kozlowski

[…] stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period [ncbi.nlm.nih.gov]

short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular [rarediseases.info.nih.gov]

Photographs of the second sibling pair showing (A) short-trunk dwarfism, (B) compressed root of the nose, and (C) genu valgum. [healio.com]

Spondyloepiphyseal Dysplasia Congenita

The clinical findings include short-trunk dwarfism, myopia, frequent retinal detachment, shortening of the spine and proximal extremities, mild thoracic kyphoscoliosis, a [ncbi.nlm.nih.gov]

Spondyloepiphyseal dysplasia (SED) is a rare disease that causes vertebral abnormalities and short-trunk dwarfism. The two forms of SED are congenita and tarda. [ncbi.nlm.nih.gov]

Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia [ncbi.nlm.nih.gov]

Congenital Scoliosis due to Bony Malformation

A brother and a sister affected with brachyolmia (short trunk) are reported. [ncbi.nlm.nih.gov]

Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the [ncbi.nlm.nih.gov]

We have investigated a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis. [ncbi.nlm.nih.gov]

Platyspondyly

Pathology by systems Locomotory system Bones non-short-trunk chondrodysplasia with platyspondyly Thursday 16 November 2006 Types achondroplasia thanatophoric dysplasia (thanatophoric [humpath.com]

The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [read.qxmd.com]

Affected individuals may be relatively tall despite the presence of a short trunk. [mendelian.co]

Dyggve-Melchior-Clausen Syndrome

Abstract The Dyggve-Melchior-Clausen syndrome is an inherited disorder of skeletal development characterized by short-trunked dwarfism, mental retardation, and a distinctive [ncbi.nlm.nih.gov]

We report a case of Dyggve-Melchior-Clausen syndrome, a skeletal dysplasia with short trunk dwarfism and mental retardation. [ncbi.nlm.nih.gov]

An 18-year-old mentally retarded girl with short-trunked dwarfism is described as a case of the Dyggve-Melchior-Clausen syndrome. [ncbi.nlm.nih.gov]

Spondylocarpotarsal Synostosis

We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral [ncbi.nlm.nih.gov]

There is a disproportionately short trunk. Some patients have a unilateral unsegmented bar. [ncbi.nlm.nih.gov]

Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation [ncbi.nlm.nih.gov]

Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

Abstract Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked [ncbi.nlm.nih.gov]

A 23-year-old man was diagnosed as having X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) based on his disproportionately short trunk, short stature, characteristic [ncbi.nlm.nih.gov]

We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 4

Most patients are normal at birth and then begin to display growth retardation with a short trunk and neck. [themedicalbiochemistrypage.org]

Abnormal curvature of the spine Cloudy cornea Heart murmur Hernia in the groin Enlarged liver Loss of nerve function below the neck Short stature (especially short trunk) [mountsinai.org]

Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu [genedx.com]

Kniest Dysplasia

Kniest dysplasia A rare subtype of collagenopathy (types II and XI) characterised by defective bone growth with short-trunk, short-limb dwarfism, painful enlarged joints leading [medical-dictionary.thefreedictionary.com]

Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and [ncbi.nlm.nih.gov]

Findings include a short trunk, prominent and stiff joints, flattened face, eye abnormalities, deafness, inguinal hernias, hip dislocation, cleft palate, and talipes equinovarus [medical-dictionary.thefreedictionary.com]

X-Linked Spondyloepimetaphyseal Dysplasia

The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence. [ncbi.nlm.nih.gov]

short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flared iliac wings 0002869 Flat [rarediseases.info.nih.gov]

Definition A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone [uniprot.org]

Skeletal Dysplasia

The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [ncbi.nlm.nih.gov]

The fetuses with skeletal dysplasia were subdivided into two groups based on the specific diagnosis: skeletal dysplasias with a short trunk and skeletal dysplasias with a [ncbi.nlm.nih.gov]

Features include: Disproportionately short stature (short limbs or short trunk). [patient.info]

Spondyloepimetaphyseal Dysplasia Type Strudwick

Definition A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis [uniprot.org]

The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue Symptoms - Strudwick syndrome * Short trunk * Short extremities [checkorphan.org]

[…] stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot [orpha.net]

Chondrodystrophy

There are two types of skeletal dysplasia: Type 1 consists of a long trunk & short limbs & Type 2 is made up of a short trunk & normal-sized extremeties. [signssymptoms.org]

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

Anthropometric measurements are of particular significance for determining the type of disproportionate short-stature, short-limb versus short-trunk. [doi.org]

Progressive Pseudorheumatoid Dysplasia

All patients developed short stature with height below the 3rd percentile and an abnormally short trunk, mainly due to vertebral dysplasia which became apparent during elementary [acrabstracts.org]

Spine involvement develops in late childhood and adolescence leading to short trunk with thoracolumbar kyphosis. Adult height is usually below the 3rd percentile. [amrita.edu]

The disorder manifests prominently in the skeletal system and presents with a disproportionately short stature, i.e., a short neck and trunk, and progressive swelling and [journals.plos.org]

Achondrogenesis

·chon·dro·gen·e·sis ( ā-kon'drō-jen'ĕ-sis ), Neonatal lethal dwarfism characterized by severe bone dysplasia of all four limbs, micromelia, enlarged cranium, and a short trunk [medical-dictionary.thefreedictionary.com]

The father had scoliosis as a child, and has slight body disproportion with short trunk. The first child was born at 32 weeks and died neonatally. [ncbi.nlm.nih.gov]

Abstract Achondrogenesis is a phenotypically diverse group of lethal osteochondrodysplasias characterized by severe micromelia, a short trunk, and a disproportionately large [ncbi.nlm.nih.gov]

Wolcott-Rallison Syndrome

There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. [ncbi.nlm.nih.gov]

Dwarfing conditions are frequently referred to as short-limb or short-trunk types, according to whether the limbs or trunk is more extensively involved. [jisppd.com]

Skeletal dysplasia generally manifests within the 1st or 2nd year of life, and is associated with short stature (dwarfism with short trunk). [orpha.net]

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

We describe an affected newborn with dysmorphic facial features and severe short trunk. [ncbi.nlm.nih.gov]

[…] stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral [malacards.org]

[…] stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with [orpha.net]

Mucopolysaccharidosis Type 4A

short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Epiphyseal deformities of tubular [rarediseases.info.nih.gov]

Skeletal symptoms Skeletal deformities Short trunk Weakness in the neck Spinal cord compression Knock knees Overly flexible joints Abnormal walk Spinal problems Chest deformities [biomarin.com]

Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia [icd10data.com]

Achondrogenesis Type 2

Affected infants had a short trunk, extreme micromelia, and a disproportionately large cranium. [mhmedical.com]

Achondrogenesis is a genetic disorder that results in skeletal abnormalities such as small limbs, short trunk and a narrow chest. [onlymyhealth.com]

Spondyloepiphyseal Dysplasia Type Cantú

Key Points “Jarcho–Levin” syndrome refers to a group of conditions characterized by short trunk dwarfism, rib and vertebral anomalies, and normal long bones. [obgyn.mhmedical.com]

Clinical description Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial [orpha.net]

The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence. [ncbi.nlm.nih.gov]

Hypogonadism

(especially in the male with low testosterone); results in deficient development of secondary sex characteristics and (in prepubertal males) a body with long legs and a short [vocabulary.com]

trunk 相关词汇 hypergonadotropic hypogonadism 中文, eugonadotropic hypogonadism 中文, male hypogonadism 中文, hypogonadotropic hypogonadism 中文, secondary hypogonadism 中文, primary hypogonadism [ichacha.net]

trunk 以上来源于: WordNet 双语例句权威例句 There is no conclusive evidence that the syndrome, also called late onset hypogonadism, exists, it warns. [dict.youdao.com]

Cystitis

The limbs are relatively short in comparison to the trunk. [ncbi.nlm.nih.gov]

[…] stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. [ncbi.nlm.nih.gov]

[…] other skeletal abnormalities and problems with vision and hearing.People with Kniest dysplasia are born with a short trunk and shortened arms and legs. [ncbi.nlm.nih.gov]

Achondrogenesis Type 1B

[…] barrel-shaped chest short trunk short ribs horizontal ribs normal clavicles distended abdomen enlarged calvaria with normal ossification absent vertebral body mineralization [humpath.com]

trunk Note: Infants affected with achondrogenesis typically are stillborn or die shortly after birth. [merriam-webster.com]

Klinefelter Syndrome

Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) Infertility [nlm.nih.gov]

trunk). [genome.gov]

Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts (gynecomastia) Infertility [medlineplus.gov]

Sprengel Deformity

Clinically, it presents with a short trunk, a short neck and scoliosis which is mild and non-progressive in nature [1]. [medresearch.in]

[…] neck, short trunk and multiple vertebral and rib anomalies. [jcsr.co.in]

trunk, short neck and non-progressive mild scoliosis. [mjdrdypu.org]

Actinic Keratosis

It presents as a scaly, pink to red-brown patch and is predominantly located on the trunk. [podiatrytoday.com]

[…] field therapy with ingenol mebutate led to complete clearance in 28% to 42% of patients treating actinic keratoses on the trunk or extremities (using 0.05% concentration) [doi.org]

Superficial basal cell carcinomas typically will have shiny white-to-red areas, erosions and short, fine, polymorphous telangiectasias. [podiatrytoday.com]

Periodontitis

For example, in case of very short common root trunk a CAL of 4 mm may have resulted in class II furcation involvement, hence shifting the diagnosis from stage II to stage [onlinelibrary.wiley.com]

Ulna Metaphyseal Dysplasia Syndrome

Features include: Disproportionately short stature (short limbs or short trunk). [patient.info]

Photographs of the second sibling pair showing (A) short-trunk dwarfism, (B) compressed root of the nose, and (C) genu valgum. [healio.com]

Arthrogryposis: no dwarfism, no epi-metaphseal involvement, no ear deformity and hitchhiker thumb SED: short-trunk dwarfism with stiff hips and often cleft palate and clubfoot [gait.aidi.udel.edu]

Gastroesophageal Reflux Disease

The lesser curve is supplied by the left and right gastric arteries, branches of the celiac trunk and hepatic artery, respectively. [emedicine.com]

The greater curve is supplied by the right gastroepiploic artery arising from the gastroduodenal artery and the left gastroepiploic artery and the short gastric arteries originating [emedicine.com]