Presentation
Entire Body System
- Fishing
Complete radiologic examination in one index patient revealed a generalized moderate osteoporosis, platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces. [push-zb.helmholtz-muenchen.de]
- Camping
Similarly, cervical platyspondyly is seen in spondylocamptodactyly (OMIM 600000), a disorder inherited as an autosomal dominant mutation in which scoliosis and camp-todactyly are features (Lizcano-Gil et al. 1995). [rrnursingschool.biz]
Respiratoric
- Respiratory Abnormalities
abnormality Relative macrocephaly Osteochondroma Irregular epiphyses Coarse facial features Metaphyseal widening Periarticular calcification Abnormal facial shape Mesomelia Absent nasal cartilage Proportionate short stature Absent nasal bridge Vertebral [mendelian.co]
Jaw & Teeth
- Trismus
[…] clefting Intervertebral space narrowing Broad phalanx Broad femoral neck Metaphyseal irregularity Mild myopia Sensorineural hearing impairment Hip pain Cleft palate Arthritis Short toe Beaking of vertebral bodies Growth abnormality Hypoplastic ilia Trismus [mendelian.co]
Eyes
- Ectopia Lentis
lentis Overfolded helix Abnormality of the urinary system Elbow dislocation Apnea Myalgia Macroglossia Shield chest Anterior beaking of lumbar vertebrae Angiokeratoma corporis diffusum Oligosacchariduria Angiokeratoma Abnormality of temperature regulation [mendelian.co]
Metaphyseal acroscyphodysplasia MedGen UID: 344453 • Concept ID: C1855243 • Disease or Syndrome Kniest like dysplasia lethal MedGen UID: 383721 • Concept ID: C1855605 • Disease or Syndrome Kniest-like dysplasia with pursed lips and ectopia lentis MedGen [ncbi.nlm.nih.gov]
Musculoskeletal
- Small Hand
hand Myelopathy Limited elbow extension Decreased body weight Short phalanx of finger Functional respiratory abnormality Relative macrocephaly Osteochondroma Irregular epiphyses Coarse facial features Metaphyseal widening Periarticular calcification [mendelian.co]
Ears
- Low-Set Posteriorly Rotated Ears
posteriorly rotated ears Oxycephaly Midface retrusion Malar flattening Macrocephaly Low-set ears Premature pubarche Lower limb undergrowth Delayed epiphyseal ossification Bowing of the legs Secondary amenorrhea Acne Skeletal dysplasia Delayed skeletal [mendelian.co]