May 26, 2019 · Hypoplasia of the facial bones may be the first indicator of Treacher Collins Syndrome (TCS). The cheek (malar or zygomatic) bone is smaller or absent. A cleft in the …

Jul 20, 2004 · Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric …

We examined the prevalence of known facial features of Marfan syndrome (MFS)—dolicocephaly, malar hypoplasia, enophthalmos, retrognathia, and down-slanting palpebral fissures—and the …

Facial Features: Stickler Syndrome is marked by a flat facial profile resulting from underdeveloped midfacial bones (malar hypoplasia). Many patients also present with Pierre Robin sequence, …

Jan 21, 2025 · Individuals with Marfan syndrome may have several distinct facial features including a long, narrow skull (dolichocephaly), deep-set eyes (enophthalmos), an abnormally …

Nov 1, 2023 · Infants with TCS exhibit underdeveloped (hypoplastic) or absent cheekbones (malars), causing this area of the face to appear flat or sunken. The bone of the lower jaw …

Malar flattening is when the malar or zygomatic bone is underdeveloped. Also known as the cheekbone it may have a flat appearance or appear smaller than normal. Symptoms may …

May 24, 2016 · Working with the Marfan mouse model, investigators found that FBN1 mutations result in excessive TGF-β signaling. The Marfan phenotype (long limbs, scoliosis, pectus …

Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are …

Patients have facial dysmorphism with hypoplasia of the ala nasae, upslanting palpebral fissures, and malar hypoplasia. The teeth are widely spaced and there is malocclusion. Short stature is …