A 15 day old Turkish boy presented with a small flat face, dolicocephalic head, proptotic eyes, short neck, low-set ears and a small thoracic cage. Limbs were mesomelically short and bilateral talipes equinovarus was present. [ncbi.nlm.nih.gov]

He also required a gastrostomy for poor feeding. Figure 2 Patient 2 aged 3.5 years. At 3½12 years, his height was 92 cm ( 97th centile). There was moderate global developmental delay. [jmg.bmj.com]

There have been recurrent upper and lower respiratory infections and persistent mild stridor. There was mild developmental delay, particularly affecting gross motor development. [jmg.bmj.com]

Macroscopical synopsis systemic anomalies short limb dwarfism, prenatal onset birth length 35-49 cm low-normal range birth weight failure to thrive in survivors polyhydramnios ( /- 30%) craniofacial anomalies large anterior fontanelle macrocephaly enlarged [humpath.com]

Short limb dwarfism, prenatal onset; Birth length 35-49 cm; Failure to thrive in survivors ... [ibis-birthdefects.org]

There was a high arched palate but no cleft palate. On examination, her height was 119 cm ( Figure 9 Patient 5 aged 21 years. She had many complications with recurrent apnoea and chest infections. [jmg.bmj.com]

Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. [ncbi.nlm.nih.gov]

Macroscopical synopsis systemic anomalies short limb dwarfism, prenatal onset birth length 35-49 cm low-normal range birth weight failure to thrive in survivors polyhydramnios ( /- 30%) craniofacial anomalies large anterior fontanelle macrocephaly enlarged [humpath.com]

Large anterior fontanelle; Macrocephaly; High forehead; Flat, small face; Micrognathia; Low-set ears; Hearing loss; Hypertelorism; Short palpebral fissures; Depressed nasal root; Cleft palate ... Congenital heart defects ... [ibis-birthdefects.org]