Acetabular Hypoplasia: Causes & Reasons

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Possible Causes for Acetabular Hypoplasia

Mucopolysaccharidosis

Abstract Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death. Severe subtype develops[…] [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 6

Summary Epidemiology Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. Clinical description The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.[…] [orpha.net]

Mucopolysaccharidosis-plus Syndrome

GM1 Gangliosidosis Type 3

Title Other Names: Beta galactosidase 1 deficiency; GLB 1 deficiency; Beta-galactosidosis Subtypes: This disease is grouped under: Summary Summary GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be[…] [rarediseases.info.nih.gov]

Dyggve-Melchior-Clausen Syndrome

Small iliac wings, bilateral hip dislocation, a widened pubic symphysis, acetabular hypoplasia, a wide sacroiliac joint and deformed femoral heads are other prominent findings [symptoma.com]

In case 2, addressing acetabular hypoplasia was our main goal. [em-consulte.com]

Enlargement of the costochondral junction Flat acetabular roof Flat glenoid fossa Genu valgum Hallux valgus Hypoplastic facial bones Hypoplastic iliac wing Hypoplastic ischia [dovemed.com]

Femoral Hypoplasia

Based on the presence of the femoral head, a stable hip joint or acetabular hypoplasia, it is classified in A–D. [sjmms.net]

[…] kidneys Ureteric abnormalities (reflux / hydronephrosis) Small penis Markedly asymmetric involvement Halberd-shaped ilia / crescent-shaped iliac wings Irregular / abnormal acetabular [mediscansystems.org]

[…] deficiency - ray Bony restriction of joint anomaly Contractures of large joints (soft tissue) Syndactyly of fingers Talipes Hypoplastic lungs Tracheal abnormality Agenesis / hypoplasia [mediscansystems.org]

Ischio-Coxo-Podo-Patellar Syndrome

[…] of the ischiopubic junction and infra-acetabular axe-cut notches. [ncbi.nlm.nih.gov]

In 1981, Vanek4) reported 3 familial cases that showed infra-acetabular axe-cut notches besides hypoplastic patellae. [ncbi.nlm.nih.gov]

Abstract Small patella syndrome (SPS) is characterized by aplasia or hypoplasia of the patella and pelvic girdle abnormalities, including bilateral absence or delayed ossification [ncbi.nlm.nih.gov]

Multiple Epiphyseal Dysplasia with Miniepiphyses

Note: acetabular roof hypoplasia andirregularity, markedly small capital femoral epiphyses (mini-epiphyses).B: Hand and wrist at age 10 years. [docslide.com.br]

[…] roof Limb undergrowth Limb muscle weakness Distal muscle weakness Facial palsy Thoracic hypoplasia Bowing of the legs Upper limb undergrowth Genu valgum Muscle weakness Mesomelic [mendelian.co]

[…] connective tissue Decreased pulmonary function Restricted neck movement due to contractures Achilles tendon contracture Spinal rigidity Congenital contracture Juvenile onset Flat acetabular [mendelian.co]

X-Linked Spondyloepimetaphyseal Dysplasia

[…] roof 0003180 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small [rarediseases.info.nih.gov]

flattening of the acetabular roof, shortening of the femoral neck and base of the ilium, and delayed fusion of the pubic and ischial bones. [journals.plos.org]

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

Thoracomelic Dysplasia

No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. [rarediseases.info.nih.gov]

Disease definition Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia [rarediseases.info.nih.gov]

Saldino-Noonan Syndrome

[…] spurs laryngeal anomalies ( 2348734 ) epiglottic hypoplasia ( 2348734 ) cardiovascular malformations transposition of great vessels digestive anomalies gastrointestinal atresia [humpath.com]

[…] narrow thorax severe micromelia (short limbs) deficient ossification of calvaria, vertebrae, pelvis, and bones of the hands and feet metaphyseal dysplasia small ilia osseous acetabular [humpath.com]

Pelviscapular Dysplasia

[…] the iliac and acetabular wings occurred in both patients. [accessanesthesiology.mhmedical.com]

Congenital dwarfism (rhizomelic micromelia), facial dysmorphism (macrocephaly, hypertelorism, low-set ears), short neck, agenesis of the scapular wings, and hypoplasia of [accessanesthesiology.mhmedical.com]

Hemimelia

In cases where the femur also requires lengthening there should be an evaluation for acetabular hypoplasia for similar reasons. [posna.org]

Hip Dislocation

Her hip joint was associated with acetabular dysplasia and hypoplasia of the posterior acetabular wall. [ncbi.nlm.nih.gov]

[…] cases reported in Woolf et al,3 the instability was rectified with a modified Pemberton procedure in which the graft was placed posteriorly to help improve the posterior acetabular [online.boneandjoint.org.uk]

In Down syndrome, few cases of developmental dysplasia and hypoplasia of the posterior acetabular wall have been reported. [ncbi.nlm.nih.gov]

Postaxial Polydactyly Type A4

Mild short stature Acetabular dysplasia Hip dysplasia Lipoma Micromelia Platyspondyly Clinodactyly Pes cavus Clinodactyly of the 5th finger Anteverted nares Wide nasal bridge [mendelian.co]

[…] stenosis Bifid uvula Laryngeal web Sensorineural hearing impairment Global developmental delay Nystagmus Intellectual disability Dislocation of the femoral head Shallow acetabular [mendelian.co]

[…] fossae Myelomeningocele Tracheomalacia Hypoplasia of the odontoid process Synostosis of carpal bones Dislocated radial head Cataract Limited elbow extension Finger clinodactyly [mendelian.co]

Choanal Atresia and Lymphedema

[…] dysplasia Cerebellar hypoplasia Proptosis Gastroesophageal reflux Craniosynostosis Narrow chest Talipes Broad finger Femoral bowing Anotia Underdeveloped nasal alae Flared [mendelian.co]

Coloboma Talipes equinovarus Decreased head circumference Pretragal ectopia Hypertelorism Ptosis Abnormal facial shape Delayed speech and language development Facial asymmetry Acetabular [mendelian.co]

Fibular Hemimelia

In cases where the femur also requires lengthening there should be an evaluation for acetabular hypoplasia for similar reasons. [posna.org]

Patterson Pseudoleprechaunism Syndrome

Genu valgum - Growth abnormality - Hirsutism - Hypoplasia of the odontoid process - Increased circulating cortisol level - Intellectual disability, progressive - Intellectual [syndrome.medicclub.info]

Signs and Symptoms Approximate number of patients (when available) Cervical platyspondyly - Diabetes mellitus - Flat acetabular roof - Generalized bronze hyperpigmentation [syndrome.medicclub.info]

[…] disability, severe - Irregular acetabular roof - Irregular sclerotic endplates - Joint swelling onset late infancy - Kyphoscoliosis - Large hands - Long foot - Macrotia - [syndrome.medicclub.info]

Platyspondyly

[…] roof Caudal appendage Aplastic clavicle Carpal bone hypoplasia Abnormality of the rib cage Flat acetabular roof Abnormality of the face Abnormality of epiphysis morphology [mendelian.co]

/clouding lymphadenopathy progressive deafness spinal kyphoscoliosis prominent mandible and lower face short neck Plain radiography/CT Axial manifestations platyspondyly hypoplasia [jssmcradiology.com]

Bowing of the legs Secondary amenorrhea Acne Skeletal dysplasia Delayed skeletal maturation Irregular, rachitic-like metaphyses Severe carpal ossification delay Irregular acetabular [mendelian.co]

Tibia Varum

The pelvis will show absence of sacral alae, narrow iliac bones, acetabular hypoplasia, and poor pubic ossification as well as widely separated, short ischial bones. [pubs.rsna.org]

Spondyloepimetaphyseal Dysplasia Type Matrilin-3

[…] roof Irregular epiphyses Lumbar hyperlordosis Metaphyseal widening Micromelia Ovoid vertebral bodies Platyspondyly Posterior rib cupping Thoracic hypoplasia Nervous System [familydiagnosis.com]

acetabular roofs,wide proximal femoral epiphyseal plates, metaphyseal irregulari-ties, and markedly delayed carpal bone ossification. [docslide.com.br]

Ermine Phenotype

[…] dislocation Elbow dislocation Limited elbow extension Dislocated radial head Patellar dislocation Irregular epiphyses Small epiphyses Multiple epiphyseal dysplasia Shallow acetabular [mendelian.co]

[…] fossae Protanopia Depigmented fundus Congenital adrenal hypoplasia Irregular capital femoral epiphysis Torticollis Clumsiness Abnormality of eye movement Bulbous nose Clonus [mendelian.co]

Arthralgia Joint stiffness Small for gestational age Hip dislocation Complete congenital stationary night blindness Abnormality of retinal pigmentation Joint dislocation Aplasia/Hypoplasia [mendelian.co]

Monosomy 21q

Dysplasia Ulno-Fibular Dysostosis Calcaneocuboid Fusion Spine Supernumerary Or Butterfly Vertebrae Urogenital System Cryptorchidism Kidney Hypoplasia Horseshoe Or Bifid Kidney [neo-genetics.com]

Slender Hands, Broad Feet, And Syndactyly Of The Toes Dermatoglyphic Defects Consist Of Single Transverse Palmar Creases Extremities Joint Contractures Large Stiff Joints Acetabular [neo-genetics.com]

Patella Aplasia - Hypoplasia

Radiographs showed patellar hypoplasia, irregular ossification of the ischiopubic junction, and infra-acetabular axe cut notches (fig 2 ). [jmg.bmj.com]

Differences, defective ossification at the ischiopubic junction, ischial hypoplasia, infra-acetabular “axe-cut” notch, no nail changes, no elbow changes, no renal involvement [doi.org]

Based on these findings we propose a/hypoplasia of the patellae and absent/delayed/irregular ossification of the ischiopubic junctions or infra-acetabular axe cut notches [jmg.bmj.com]

Adams-Oliver Syndrome Type 3

An AP radiograph <strong>of</strong> hips at birth, showed bilateral acetabular dysplasia. Bilateral foot radiograph, bilateral hypoplasia <strong>of</strong> toes. [yumpu.com]

Anauxetic Dysplasia

(B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks. [jmg.bmj.com]

The acetabular fossae are shallow and slanted with a wide iliac angle. (C) The metaphyses are mildly flared with abnormal mineralisation and irregular margins. [jmg.bmj.com]

Nail-Patella Syndrome

Infra-acetabular "axe-cut" notch No: Nail changes Elbow changes Renal involvement Ocular involvement OMIM 147891, Bongers et al [2004] Patella aplasia- hypoplasia (PTLAH) [ncbi.nlm.nih.gov]

[…] podo-patellar syndrome, Scott-Taor syndrome) Small or absent patellae Recurrent patella dislocations Pelvic anomalies Defective ossification at the schiopubic junction Ischial hypoplasia [ncbi.nlm.nih.gov]

Atelosteogenesis

[…] metabolism/homeostasis ; Autosomal recessive inheritance ; Cervical kyphosis ; Cleft palate ; Coronal cleft vertebrae ; Depressed nasal bridge ; Dumbbell-shaped femur ; Flat acetabular [mousephenotype.org]

[…] roof 0003180 Frontal bossing 0002007 Hitchhiker thumb 0001234 Horizontal sacrum 0003440 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary [rarediseases.info.nih.gov]

[…] roof ; Horizontal sacrum ; Lumbar hyperlordosis ; Malar flattening ; Micrognathia ; Micromelia ; Midface retrusion ; Platyspondyly ; Pulmonary hypoplasia ; Respiratory insufficiency [mousephenotype.org]

Congenital Hourglass Stomach

[…] congenital left renal agenesis and right renal hypoplasia. [quizlet.com]

[…] a. congenital femoral neck anteversion b. congenital coxa valga c. congenital acetabular dysplasia d. congenital dislocation of right hip Imaging of the renal area reveals [quizlet.com]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

[…] mellitus Moyamoya phenomenon Mucopolysacchariduria Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular [mendelian.co]

[…] insufficiency Brachydactyly Hypopigmented skin patches on arms Enchondroma Progressive spastic quadriplegia Accelerated skeletal maturation Hypocalcemia Coronal cleft vertebrae Flat acetabular [mendelian.co]

[…] fossae Multiple lentigines Arteriosclerosis Hypoplasia of the capital femoral epiphysis Optic disc pallor Pancytopenia Peripheral demyelination Thoracolumbar kyphosis Antineutrophil [mendelian.co]