Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar [fpnotebook.com]

Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs, mid-face [biomarin.com]

hypoplasia, permanent sway of the lower back, spinal stenosis, recurrent ear infections and obesity.Some of these complications can result in invasive surgeries such as spinal [biomarin.com]

Mid-face abnormalities include hypertelorism, telecanthus, maxillary hypoplasia with flattening of the mid-face, prominent forehead, and broad, flat nasal bridge. [orpha.net]

Other findings included bilateral severe proptosis with optic atrophy, everted lower eyelids, severely hypoplastic nose with choanal atresia, depressed nasal bridge, and mid-face [cags.org.ae]

In 1989, Raine et al. described a new syndrome characterised by mid face hypoplasia leading to choanal athresia, hypoplastic nose, exophtalmos, microcephaly, triangular mounth [latunisiemedicale.com]

face hypoplasia. [slideplayer.com]

Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. [abcam.com]

Clinical findings Type I & II (COL2A1 & COL11A1) Type III (COL11A2) Present case High myopia - Vitreoretinal degeneration - Retinal detachment - Cataracts - Hearing loss Mid-face [hkjpaed.org]

hypoplasia Cleft palate/Pierre Robin sequence Anteverted nares Small chin Short stature /- /- Spondyloepiphyseal dysplasia Early-onset osteoarthritis (mild scoliosis) Other [hkjpaed.org]

At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. [ncbi.nlm.nih.gov]

There is mild mid face hypoplasia and a high arched palate. Life expectancy is normal. [advancedradteaching.com]

The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. [ncbi.nlm.nih.gov]

[…] typical features of this syndrome, such as large wide-open fontanels, abnormal clavicles with narrow, sloping shoulders that can be apposed at the midline, short stature, mid-face [ncbi.nlm.nih.gov]

In addition, mid-face hypoplasia, short stature, skeletal anomalies and osteoporosis are common. [ncbi.nlm.nih.gov]

Facial bones are small, mid-face hypoplasia with low nasal bridge, narrow high-arched palate, hypertelorism and conductive deafness may be seen. [jpgmonline.com]

Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. [ncbi.nlm.nih.gov]

Note flat mid-face, depressed nasal bridge. Cardiac examination was normal. Retinal immaturity was observed. [ojrd.biomedcentral.com]

Clinical evaluation showed a flat face, apparent hypertelorism, depressed nasal bridge, small upturned nose, midface hypoplasia, micrognathia, ulnar deviation of hands and [ojrd.biomedcentral.com]

The disadvantages of NiPPV include the potential for mid-face hypoplasia and skin breakdown, as well as less security in the delivery of ventilatory support.22 For all infants [tandfonline.com]

It is also important to emphasize that the mask may cause mid-face hypoplasia when introduced from infancy or early childhood [82]. [hindawi.com]

드물지만 안면골격성장장애(mid-face hypoplasia)가 보고된 바가 있어 장기간 착용하는 소아에서는 상악과 하악의 성장 및 발달에 대한 주기적인 평가를 권장하고 있다.55) 실제로 지속적양압호흡기를 소아에서 처방하는 경우 가장 문제가 되는 것은 이 장비의 지속적인 착용 여부이다. [kjorl.org]

An unreported risk in the use of home nasal continuous positive airway pressure and home nasal ventilation in children: Mid-face hypoplasia. Chest 2000;117(3):916-8. [kjorl.org]

Diastrophic dysplasia 222600 AR hypertrophic auricular cartilage, cleft palate, micrognathia Neonatal osseous dysplasia I 256050 AR micrognathia, cleft palate, flat nasal bridge, mid-face [en.wikibooks.org]

A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis. [e-acfs.org]

hypoplasia, neonatal osseous dysplasia, lethal chondrodysplasia TM Patched PTC 9q22.3 601309 Basal cell nevus syndrome (Gorlin syndrome) 109400 AD macrocephaly, broad facies [en.wikibooks.org]