Bệnh còi cọc chi ngắn, lớn trước thóp, macrocephaly, micrognathia, hở vòm miệng, giảm sản lồng ngực, mất tích thứ mười hai cặp xương sườn, giảm sản, kém ossified cổ tử cung đốt sống, cánh chậu nhỏ, phalanges ngắn cho cả hai bàn tay và bàn chân, cúi đầu trước xương chày, | 27 SRY-related HMG-box gene 9 SOX9 608160 Campomelic dysplasia autosomal dominant 114290 T-box 5 TBX5 601620 Holt-Oram syndrome autosomal dominant 142900 Short limb dwarfism large anterior fontanelle macrocephaly micrognathia cleft palate hypoplastic thoracic cage missing twelfth pair of ribs hypoplastic poorly ossified cervical vertebrae small iliac wings short phalanges for both hands and feet anterior bowing of tibia short fibula mildly bowed femur absent ossification of proximal tibial and distal femoral epiphysis Vertebral anomalies thoracic scoliosis absent or bifid thumb triphalangeal thumb carpal bone anomalies upper extremity phocomelia radial-ulnar anomalies Targeted disruption. Perinatal lethality. Skeletal defects in all bones derived from endochondral ossification include cleft secondary palate hypoplasia and bending. Skeletal abnormalities similar to those found in campomelic dysplasia patients. Skeletal patterning was not affected. Premature mineralization of skeletal elements including craniofacial region and vertebral column. Hypertrophic zone of growth plate was thicker 208 . Conditional knockout. Embryonic lethality because of malformed heart tube. Elongated phalangeal segments of first forelimb digit and hypoplastic falciformis bones in the wrist were present in multiple heterozygous mutant mice 209 . Transforming growth factor beta-1 TGFB1 190180 Camurati-Engelmann disease autosomal dominant 131300 Vitamin D3 receptor VDR 12q12-q14 601769 Vitamin D-resistant rickets autosomal recessive 277440 Sclerosis of skull base mandible involvement sclerosis of posterior part of vertebrae scoliosis progressive diaphyseal widening thickened cortices narrowing of medullary canal Rickets Targeted disruption. Lethality around weaning due to massive inflammation lesions and tissue necrosis in many organs 210 211 . Targeted disruption. Animals normal until after weaning. By 7 wk null mice develop alopecia flat face and short nose. .
