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Platyspondyly symptoms

MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly) Platyspondyly: Read more about symptoms, causes, diagnosis, tests, types, drugs, treatments, prevention, and more information Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing Delayed speech and language development, and Platyspondyly Diseases related with Delayed speech and language development and Platyspondyly. In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Platyspondyly that can help you solving undiagnosed cases

Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs. Infants with type 1 thanatophoric dysplasia also have curved thigh bones, flattened bones of the spine (platyspondyly) and shortened thoracic ribs Corneal opacities and precocious calcification of costal cartilage occur in rare cases. In AR brachyolmia-amelogenesis imperfecta syndrome, short-trunked short stature is associated with platyspondyly and enamel abnormalities. AD brachyolmia is a more severe form with significant short-trunked short stature, platyspondyly and kyphoscoliosis TD1 presents in the prenatal period (in the first to second trimester) with growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly of the vertebrae. Distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, proptosis and low nasal bridge

Thanatophoric dysplasia is a severe genetic skeletal disorder, in which limbs are abnormally short, and arms and legs have excess skin. In addition, those with this condition have a narrow chest, short ribs, under-developed lungs (pulmonary hypoplasia), as well as an enlarged head with a large forehead and widely-spaced eyes Postural kyphosis may not cause any symptoms, other than a slight rounding in your back when you slouch. More serious forms cause a visible rounding or hump in the back, along with symptoms like

Platyspondyly (Concept Id: C1844704

Platy-spondyly associated with short stature, severe hip changes, distal shortening of ulna, and signs of peripheral dysostosis, with short hands and feet, occurs in spondyloperipheral dysplasia with short ulna (OMIM 271700) (Kelly et al. 1977) Hyperreflexia, and Platyspondyly If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Osteoporosis, related diseases and genetic alterations Hyperreflexia and Sleep disturbance, related diseases and genetic alteration Other symptoms involving the bones include the presence of kyphoscoliosis, lordosis, platyspondyly, coxa vara, a barrel-shaped chest, clubfoot, arthritis and reduced joint [biology-research.blogspot.com Platyspondyly is a congenital anomaly consisting essentially of a widening of the vertebral body, as is indicated by its derivation from the Greek terms platy meaning wide and spondylos signifying vertebra. This designation was coined in 1910 by Putti, who was the first to describe the deformity The most obvious symptom of polydipsia is a feeling of extreme thirstiness. This symptom is especially noticeable when you feel this way even after you've already drunk a lot of water. Other common..

Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital), it may not become apparent until early childhood when symptoms such as deformities or improper limb growth are more obvious. Ollier disease primarily affects the long bones and. Spondyloepiphyseal dysplasia congenita (SED, or SEDC) is a disorder with autosomal dominant inheritance and considerable variability in the severity of symptoms. It is characterized by flat facial profile, marked nearsightedness, , short-trunk dwarfism, waddling gait, normally sized hands and feet, and increased incidence of retinal detachment. Mild platyspondyly with ovoid-pear-shaped vertebral bodies. Insufficient data or too many symptoms. Either add or remove symptoms. Show info Start test. ⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it. Thanatophoric dysplasia type 1 is a form of thanatophoric dysplasia characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. The prevalence is unknown but it is more common than thanatophoric dysplasia type 2

Platyspondylic lethal skeletal dysplasia, Torrance type

Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot) Major symptoms include stiffness of joints, bony swellings of toes and fingers, weakened muscles, fatigue and bowed legs. [ashg.org] It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly Dyggve-Melchior-Clausen syndrome (DMC) is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother's paternal uncle Signs and symptoms [ edit ] This condition is a skeletal dysplasia characterized by short stature, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, platyspondyly, delayed epiphyseal ossification, mild [en.wikipedia.org Moderate platyspondyly has been described with enlarged but shortened ribs and an irregular iliac crest. Rhizomelic shortening of the limbs is common. The femoral metaphyses are abnormal with their necks shortened and enlarged. The ribs are enlarged but shortened as well and are flared at the ends. Mental development and function are normal

Platyspondyly - Symptoms, Causes, Diagnosis, Treatments

  1. ABNORMALITY OF THE SKELETAL SYSTEM and PLATYSPONDYLY related symptoms, diseases, and genetic alterations. Get the complete information with our medical search engine for phenotype-genotype relationship
  2. SCOLIOSIS and PLATYSPONDYLY related symptoms, diseases, and genetic alterations. Get the complete information with our medical search engine for phenotype-genotype relationship
  3. Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Explore symptoms, inheritance, genetics of this condition
  4. Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance
  5. X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the arms and legs. Tarda indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood.

Freeman-Sheldon syndrome is a rare disorder that affects males and females in equal numbers. Approximately 100 cases have been reported in the medical literature since the disorder was first described in 1938 by Drs. Freeman and Sheldon. Some cases occurred within families (kindreds) over several generations The COL2A1 gene provides instructions for making one component of type II collagen, called the pro-alpha1(II) chain. Type II collagen adds structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin. Type II collagen is found primarily in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development Type I: In this type of Stickler syndrome has the greatest risk of retinal detachment.The cause of type I of Stickler syndrome is mutagenic abnormality in COL2A1 gene on chromosome 12q13.11. Type II: Eye abnormalities with prominent hearing loss are also common symptoms of type II Stickler syndrome.The cause of type II of Stickler syndrome is a mutagenic abnormality in COL11A1 gene on. Severe primary IGF-1 deficiency (SPIGFD) is a medical term used when IGF-1 levels are extremely low or undetectable in the blood. The classical (most well recognised) form of SPIGFD is a genetic condition called Laron syndrome. Patients with Laron syndrome have an abnormal growth hormone receptor (GHR) which does not function properly

Craniocervical CT and MR Imaging of Schwartz-Jampel

The signs and symptoms of this condition can vary from life threatening to mild. Signs and symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly), and restriction of certain joints in the body Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first Symptoms often include weakness and pain but can in rare cases cause nerve pains, tingling or incontinence. By far the biggest contribution to wedge fractures is osteoporosis. If the spine is osteoporotic, there is thinning of the bone and even small traumas or falls might cause a collapse. Rarely, the collapse can occur without explanation. Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen.The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes Kniest dysplasia from other type II osteochondrodysplasia is the level of severity and the dumb-bell shape of. 1. Introduction. Musculoskeletal complaints may be the initial presenting symptoms as a part of genetic syndromes or genetic skeletal disorders (Spencer and Patwardhan 2015).Patients with genetic skeletal disorders may present with disproportionate short stature, scoliosis, extremity anomalies (such as curvature in long tubular bones, brachydactyly, camptodactyly, limb asymmetry), or recurrent.

Platyspondylic lethal skeletal dysplasia Torrance type

Neuromyotonia (NMT), or Isaacs's syndrome, is a syndrome of spontaneous and continuous muscle fiber contraction. The clinical features include muscle stiffness, cramps, myokymia (visible undulation of the muscle), pseudomyotonia (slow relaxation after contraction) and weakness, most prominent in the limbs and trunk. Increased sweating is common ZC4H2 stands for Zinc finger C4H2-type. ZC4H2 is a gene located on the X-chromosome. This gene encodes a protein which is a member of the so-called zinc finger domain-containing protein family. There is currently very limited understanding about the ZC4H2 gene and its protein function. It is believed that ZC4H2 plays an important role in. Odontoid fractures are relatively common fractures of the C2 vertebral body (axis) that can be seen in low energy falls in eldery patients and high energy traumatic injuries in younger patients. Treatment depends on the location of the fracture within the C2 vertebrae defined by the Anderson and D'Alonzo classification system and the patient's risk factors for nonunion (failed bone healing)

Delayed speech and language development and Platyspondyly

Autosomal recessive disorders occur when a person has defects in both copies of an autosomal gene (a gene that is located on any of the autosomes) (Figure 3.1B), resulting in loss of function (Figure 3.2A).If both copies of the gene have the same deleterious mutation, the defect is termed homozygous. If each copy of the gene has a different deleterious mutation, the defect is termed. Background: Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and treatment of this progressive, multisystem disease by enzyme replacement therapy (ERT) can lead to improved outcomes and reduced mortality

Platyspondyly - Syndrome Omim - RR School Of Nursing

Thanatophoric Dysplasia: Causes, Symptoms and Treatment

  1. ent forehead, narrow midface, flattening of the vertebral bodies and dental anomalies
  2. imal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic.

Brachyolmia Genetic and Rare Diseases Information Center

  1. The lateral view of the spine shows osteopenia and platyspondyly with anterior beaking. There is a thoracolumbar kyphosis. results in a wide range of clinical symptoms from mild somatic complications and a normal lifespan to severe central nervous system involvement and a significantly shortened lifespan
  2. or long bone abnormalities. We describe 18 patients, from different ethnic backgrounds and ages ranging from infancy to 19 years, with the autosomal recessive form, associated with PAPSS2. The main
  3. X-rays of the spine show platyspondyly and flame-shaped anterior projections. The interpedicular distance does not progressively decrease in the lumbar spine. In the neck, lateral X-rays of the cervical spine may reveal odontoid hypoplasia. The vertebrae will at first seem deformed, but the irregularities generally disappear by adolescence
  4. Rationale: Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is pleiotropic and involves neurological impairment and immune dysfunction. Dentofacial abnormalities and orofacial symptoms in SPENCD patients have been little discussed in the.
  5. Symptoms, usually of the respiratory type, can be noted in newborns or young infants. Patients will begin to have great difficulty standing independently. Chronic motor weakness will begin to occur in the upper and lower limbs especially, followed by episodes of quadriplegia
  6. Children with spondyloepiphyseal dysplasia present with a disproportionate short stature, platyspondyly, scoliosis, coxa vara, and clubfeet. Extraskeletal manifestations such as retinal detachment and deafness have been reported. The authors report two patients, a mother and her daughter, aged 35 an

Thanatophoric dysplasia type 1 Genetic and Rare Diseases

Thanatophoric Dysplasia: Symptoms, Causes, Diagnosis, and

Gaucher disease (GD) is the most common lysosomal storage disorder in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in the accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrophages, particularity in the bone marrow, spleen and liver Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones. The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss.There is extreme variation in clinical symptoms. Osteogenesis Imperfecta. Osteogenesis imperfecta (OI), or brittle bone disease, is a rare genetic connective tissue disorder characterized by severe bone fragility. Although OI is considered a single disease, OI includes over 16 genotypes and clinical phenotypes with differing symptom severity. Of these 16, types I-IV are the most common

Lysosomal storage diseases - IOS PressMultiple sulfatase deficiency with neonatal manifestation

Kyphosis (Round back): Causes, Symptoms, and Treatmen

Vertebra plana (plural: vertebrae planae), also known as the pancake, silver dollar or coin-on-edge vertebra, is the term given when a vertebral body has lost almost its entire height anteriorly and posteriorly, representing a very advanced compression fracture.. Pathology. It can occur in a variety of settings, including: trauma; osteoporosis; Langerhans cell histiocytosis (LCH Thanatophoric Dysplasia, Type 1 (TD1) is a severe skeletal disorder characterized by a normal-shaped skull, curved thigh bones and flattened bones of the spine (platyspondyly). The term thanatophoric is Greek for death bearing. Infants with TD1 are usually stillborn or die shortly after birth from respiratory failure; however, a few. Pyle Disease is a bone disorder characterized by knock knees (genu valgum), relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone (Erlenmeyer flask deformity), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly), and thinning of outer (cortical) layer of bone Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome. Clin Genet. 2001 Feb;59(2):99-105

Platyspondyly - Syndrome Omim - RR School Of Nursin

Timing of symptoms: Recurrent respiratory infections, bone and cartilage deformities, low-set ears, pointy nose noted early in life. Age of onset: Onset of symptoms in infancy, childhood or adolescence. Skin cutaneous: Hyperpigmented macules, vitiligo. Narrow, pointy nose. Low-set ears. High risk for severe varicella infection Spondylo-ocular syndrome. Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly.Mild craniofacial dysphormism has been reported including short neck, large head and 1 More on Spondylo-ocular syndrome

Hyperreflexia and Platyspondyly, related diseases and

Systemic Features: Aortic aneurysms with or without dissection have been diagnosed as early as 1 year of age but may not be apparent until teenage years. Pectus deformities, joint hypermobility, and skin striae may be seen. Hypertrichosis, evidence of skeletal dysplasia such as hip dislocation, platyspondyly, phalangeal dysplasia, joint. Platyspondyly Dural ectasia - most of which may present with multiple and varying symptoms. The pediatric connective tissue diseases include juvenile dermatomyositis, juvenile systemic lupus erythematosus, childhood scleroderma, and a range of overlap disorders and less clearly differentiated conditions. Although these diseases have. Spondyloepiphyseal Dysplasia (SED) Spondyloepiphyseal Dysplasia is a rare congenital disorder most commonly caused by a COL2A1 mutation leading to abnormal Type II collagen synthesis. Patients present with dwarfism, flattened faces, scoliosis, and in some cases gait instability as a result of cervical myelopathy Pelger-Huet anomaly. Pelger-Huet anomaly is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape (bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy)

Platyspondyly: Causes & Reasons - Symptom

  1. Flares every 2-4 weeks lasting 5-7 days. Some have predictable fever and flare patterns, but most have random attacks, ranging from weekly, to every 3-4 weeks. One case had weekly fevers in infancy, that become bi-monthly in childhood. Periodic fevers with vomiting, and diarrhea starting in infancy for most cases
  2. Platyspondyly may be seen as a solitary vertebral finding, or in conjunction with other skeletal features. Some of the more common types of dysplasia that demonstrate platyspondyly, include pseudoachondroplasia, metatropic dysplasia, and type II collagen disorders such as Kniest dysplasia (with coronal clefting) [ 18 ] and spondyloepiphyseal.
  3. Cystic Hygroma Symptoms. Symptoms of a cystic hygroma depend on where and how big it is. The growth may make it hard for nearby organs and other body parts to work the way they should
Spondylometaphyseal Dysplasia, Axial disease: MalacardsBruck Syndrome 2 disease: Malacards - Research Articles

Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait ICD-11 FA70 Spinal deformities - FA70.1 Scoliosis Scoliosis is known not to be limited only to the frontal plane, and can be defined as a three dimensional torsional deformity of the spine and trunk it causes a lateral curvature in the frontal plane, an axial rotation in the horizontal one, and a disturbance of the sagittal plane normal curvatures, kyphosis and lordosis, usually, but not. Produces unrestrained reflex activity of skeletal muscles & autonomic nervous system. Spores resistant to: Heat, usual antiseptics & chemical agents. Spores destroyed by: Autoclaving at 120°C for 15 minutes; Boiling for at least 4 hours. Animals: Horses, sheep, cattle, dogs, cats, rats, chickens Symptoms begin after birth and progress rapidly. If symptoms are not treated properly, the disease usually leads to death before 10 years of age. Hurler-Scheie syndrome is the intermediate form of this disease. Patients with this syndrome have no apparent cognitive alteration Conditions Treated. In the Epigenetic Syndromes Clinic, we are initially focusing on the following four conditions; however, we will see and follow any patient with other congenital epigenetic disorders (CEDs) as shown in the list below. All conditions involve problems with how the body uses our large recipe book or instruction manual, DNA

(A) Sagittal T2-W MR images showing a 5-by 3Osteogenesis Imperfecta, Type Ii disease: MalacardsMolecular screening of ADAMTSL2 gene in 33 patients

SIGNS / SYMPTOMS. A rare genetic disorder resulting in bilateral epiphyseal dysplasia with both hips at the same stage and with the same degree of involvement. Although Perthes disease can be bilateral, it is more likely to be sequential than simultaneous. Bilateral Perthes disease with spine involvement, known as platyspondyly. Short stature with platyspondyly without phalangeal epiphyseal dysplasia excluded VPED from the diagnosis . ANFH patients have flattened femoral heads with signs of premature osteoarthritis. However, the femoral heads of proband's father (III:1) and grandfather (II: 3) were totally absent causing bilateral hip dysplasia and dislocation

Symptoms of Atelosteogenesis type 2. Symptoms. The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms. Abnormality of metabolism/homeostasis Autosomal recessive. Clinical features and severity of symptoms vary widely both among and within the seven major types of MPS; however, musculoskeletal involvement is a common feature in all types. Early in the disease course and in those with milder forms of disease patients with MPS may first seek medical attention because of musculoskeletal complaints

included short stature with platyspondyly, flat midface and Pierre Robin sequence, severe dysplasia of the proximal femora, and severe retinopathy that could lead to blindness. By whole exome sequencing, a novel heterozygous deletion, c.4161_4165del, in COL2A1 was identified. The phenotype is atypical for those described for mutations in th Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients—a brother and a sister and their third cousin—in a family and one patient in another family) with SEDT-PA. All patients had short stature and stubby hands and feet

Platyspondyly with anterior wedging of vertebral bodies is also characteristic. In newborns, lumbar bodies exhibit coronal clefts. The ilia are broad ilia with hypoplasia of the basilar portions. By age 3, the pelvis has dessert-cup shape. The tubular bones are short with flared metaphyses and large, deformed epiphyses The liver is slightly enlarged. There are multiple abnormalities of the spine (platyspondyly, odontoid hypoplasia, cervical subluxation and cervical myelopathy). The chest is pigeon-shaped (pectus carinatum). There is joint laxity and knock knees (genu valgum) and hip deformity (dysplasia). The intelligence is normal However, platyspondyly may be difficult to identify even for the experienced US operator. Pelvis. The shape of the pelvis can be important in cer-tain dysplasias and dysostoses, such as limb-pel-vic hypoplasia; femoral hypoplasia-unusual face syndrome (hypoplastic acetabulae, constricte

Extrapyramidal symptoms • Atypical absences • Diffuse platyspondyly with mild anterior wedging of the lumbar vertebrae at Spinal MRI and X-ray Stable • Severe dysarthria • Attention deficit • Mild hypotonia • Brisk reflex with mild bilateral clonus • Awkwardness • Bradykinesia with freezing • Gait ataxia - No osteoarthritic symptoms [UMLS: C1834973] Spine - Mild platyspondyly [UMLS: C1848999] [HPO: HP:0005752] - Endplate irregularity [UMLS: C1842153 HPO: HP:0003301] [HPO: HP:0003301 UMLS: C1842153] Pelvi Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications. Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a diagnosis of Morquio A syndrome Golding (1935) and Klenerman (1961) described 2 sons and a daughter, of a first-cousin marriage, who showed short stature, flat vertebrae, and severe hip disease. In the proband, symptoms in the back began at 15 years, followed by symptoms referable to the hips. Multiple loose bodies were removed from various joints of 1 sib--18 from the right hip at about age 26, several from the left elbow.