The patient presented here had characteristic clinical findings of NS. [symbiosisonlinepublishing.com]

A review of the past medical history of affected family members did not show any associated medical problems that were present in every affected subject. [jmg.bmj.com]

Conductive hearing loss is present in more than 80% of patients. [radiologykey.com]

Dysmorphology Database [Winter and Barait-ser, 1996], and Pictures of Standard Syndromes andUndiagnosed Malformations [Danks and Bankier,1998] yielded several mandibulofacial dysostoses with-out anomalies limb, which should be differentiatedfrom the present [fdocuments.in]

• Dysostosis

  Man-dibulofacial dysostosis in Hutterite sibs: a possible recessive trait. AmJ Med Genet 22:501512. Marcano ACB, Richieri-Costa A. 1998. A newly recognized autosomal dom-inant mandibulofacial dysostosis (Bauru Type): report on a Brazilianfamily. [fdocuments.in]

  […] for Mandibulofacial Dysostosis Syndrome, Bauru Type Genetic Tests for Mandibulofacial Dysostosis Syndrome, Bauru Type Anatomical Context for Mandibulofacial Dysostosis Syndrome, Bauru Type Publications for Mandibulofacial Dysostosis Syndrome, Bauru Type [malacards.org]

  Here we report clinical Treacher Collins syndrome (TCS) is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described. [herbal-organic.com]

  TY - JOUR T1 - Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1. [neuro.unboundmedicine.com]

  Abstract Nager syndrome (MIM #154400) is the best-known preaxial acrofacial dysostosis, mainly characterized by craniofacial and preaxial limb anomalies. [link.springer.com]

• Pain

  Her grandson, subject V.3, also complained of hip pain but his gait was normal. The same subject had a history of gastric ulcer and sinus tachycardia; two dimensional echocardiogram was normal. [jmg.bmj.com]

  Marshall syndrome 154780 COL11A1 Autosomal dominant Hypoplastic nasal bones, congenital cataracts, myopia, sensorineural hearing loss Otospondylomegaepiphyseal dysplasia 277610, 215150 COL11A2 Autosomal dominant Sensorineural hearing loss, enlarged painful [radiologykey.com]

• Weakness

  […] lesions, erosions), ocular anomlies (microphthalmia, anophthalmia, coloboma, nasolacrimal duct stenosis/atresia), and facial anomalies (hypertelorism, broad nasal tip, upslanted palpebral fissues, cleft lip ± cleft palate, upper lip pits, lower facial weakness [radiologykey.com]

• Macrostomia

  A new form of mandibulofacial dysostosiswith macroblepharon and macrostomia. Clin Dysmorph 6:2124. Winter RM, Baraitser M. 1996. LDDB: London dysmorphology database.Oxford: Oxford University Press. [fdocuments.in]

  A new form of mandibulofacial dysostosis with macroblepharon and macrostomia. Clin Dysmorphol1997;6:21–4. [jmg.bmj.com]

• Low Set Ears

  Note low-set ears, slanting forehead, broad nasal bridge, hypertelorism, epicanthal folds, depressed nasal bridge, long philtrum, upturned nose, thin upper llip, and small mouth. [radiologykey.com]

• Small Head

  Findings may include a smooth philtrum, thin upper lip, upturned nose, flat nasal bridge and midface, epicanthal folds, small palpebral fissures, and small head circumference. (Courtesy Darryl Leja, NHGRI, National Institutes of Health.) [radiologykey.com]

• Hip Pain

  Her gait abnormalities were attributed to severe arthritis of the hip. Her grandson, subject V.3, also complained of hip pain but his gait was normal. [jmg.bmj.com]

The prenatal diagnostician should work closely with neonatal care providers to assure completion of a genetic workup. FIGURE 16-2 Examples of genomic imbalances detected by a chromosomal microarray but not by karyotyping. [radiologykey.com]

• Ventricular Hypertrophy

  Tetralogy of Fallot, atrial, muscular ventricular and subaortic ventricular septal defects, ventricular hypertrophy, cardiomegaly, aortic stenosis and pulmonary bronchial stenosis are the most common cardiovascular conditions associated with NS [5,10,11 [symbiosisonlinepublishing.com]

Skeletal characteristics and treatment outcome of five patients with Robin sequence. Angle Orthod. 2006;76(5):898–908. Google Scholar | Medline Ozawa, TO, Lorenzoni, DC, de Oliveira, LG, da Silva Filho, OG. [journals.sagepub.com]

Treatment of acute infection during pregnancy has been associated with an approximately 50% reduction in fetal infection. [radiologykey.com]

Prognosis Prognosis varies depending on the particular disorder. FIG 16-22 Abnormal sylvian fissure/insula at 26 weeks. [radiologykey.com]

Etiology Cleft Palate Craniofac J 2020 Mar;57(3):371-377. Epub 2019 Dec 5 doi: 10.1177/1055665619885555. [ncbi.nlm.nih.gov]

Etiology Many of the causative genes for lissencephaly have now been identified (see later). [radiologykey.com]

Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17(3):275–283. Google Scholar | Crossref | Medline Travieso, R, Chang, CC, Terner, JS, Beckett, J, Wong, K, Teng, E, Derek, MS, et al. [journals.sagepub.com]

Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41(1):47–52. Google Scholar | SAGE Journals | ISI Roberts, FG, Pruzansky, S, Aduss, H. [journals.sagepub.com]

Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17(3):275–283. Google Scholar | Crossref | Medline Travieso, R, Chang, CC, Terner, JS, Beckett, J, Wong, K, Teng, E, Derek, MS, et al. [journals.sagepub.com]

Prevention Toxoplasmosis infection can be prevented in large part by cooking meat to a safe temperature and peeling or thoroughly washing fruits and vegetables before eating. [radiologykey.com]