Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content ++ Aarskog syndrome (X-linked recessive) Hypertelorism Short nose Clinodactyly Brachydactyly Aase syndrome (autosomal dominant) Radial hypoplasia Cleft palate Ventricular septal defect Urogenital anomalies Acrocallosal syndrome (autosomal recessive) Agenesis of corpus callosum Intracranial cysts Hypertelorism Macrocephaly Polydactyly—postaxial Acrofacial dysostosis, Miller syndrome (autosomal recessive) Malformed ears Micrognathia Cleft lip/palate Absent digits, usually the fifth digits Radial hypoplasia Acromesomelic dysplasia (autosomal recessive) Mesomelic (forearm/lower leg) shortness Bowed radius Adams-Oliver syndrome (autosomal dominant) Absent digits Encephalocele Microcephaly Cardiac defects Clubfoot Intrauterine growth restriction Aicardi syndrome (X-linked dominant) Agenesis of corpus callosum Arachnoid cyst Dandy-Walker malformation Ventriculomegaly Microcephaly Microphthalmia Amyloplasia congenita (sporadic) Gastroschisis Micrognathia Clubfoot Joint contractures Decreased fetal movement Atelosteogenesis (autosomal dominant) Small chest Eleven pairs of ribs Hypertelorism Cleft lip and palate Micrognathia Absent humeri Absent fibula Bowed tibia Clubfoot Rhizomelic (proximal) shortening Intrauterine growth restriction Polyhydramnios Baller-Gerold syndrome (autosomal recessive) Malformed kidney Mild ventriculomegaly Hypotelorism Micrognathia Absent digits Abnormal or absent thumb Radial hypoplasia Intrauterine growth restriction Renal abnormalities Basal cell nevus (Gorlin) syndrome (autosomal dominant) Macrocephaly Calcifications in falx cerebri Ventriculomegaly—mild Beals syndrome (autosomal dominant) Joint contractures Cardiac defects Boomerang dysplasia (autosomal dominant) Bowing Severe micromelia Hypertelorism Clubfeet Polyhydramnios Branchio-oto-renal (Melnick-Fraser) syndrome (autosomal dominant) Malformed ears Renal abnormalities CHARGE association (autosomal dominant) Esophageal atresia Cardiac abnormality Anophthalmia Holoprosencephaly Cleft palate Micrognathia Genital hypoplasia Chondrodysplasia punctata (X-linked dominant, X-linked recessive, autosomal recessive) Small chest Joint contractures Rhizomelic shortening Hydrops Stippled epiphyses Chromosome: 18p- Holoprosencephaly Hypotelorism Clubfoot Cardiac abnormalities Chromosome: 18q- Microphthalmia/anophthalmia Microcephaly Chromosome: 47,XXY Increased nuchal translucency Chromosome: 4p- (Wolf-Hirschhorn) Hypertelorism Cardiac abnormality Cleft lip/palate Micrognathia Malformed ears (tags) Intrauterine growth restriction Microcephaly Cleidocranial dysplasia (autosomal dominant) Partial or total aplasia of the clavicles Brachycephaly Hypertelorism Congenital muscular dystrophy (autosomal recessive) Clenched hands Muscle wasting Congenital nephrotic syndrome (autosomal recessive) Polyhydramnios Hydrops Placentomegaly Cornelia de Lange syndrome (autosomal dominant) Cardiac abnormality Dandy-Walker malformation Microcephaly Short nose Midface hypoplasia Abnormal thumb Absent digits Absent limbs Clinodactyly Radial hypoplasia Short limbs Hydrops Intrauterine growth restriction Cri-du-chat (5p deletion) syndrome Microcephaly Micrognathia Cardiac malformation Facial abnormalities, such as cleft lip and palate Hypoplastic cerebellum Increased nuchal translucency Intrauterine growth restriction Diabetic embryopathy Duodenal atresia Malformed kidney Renal agenesis Cardiac abnormality Holoprosencephaly Spinal dysraphism Vertebral defects Cleft lip/palate Macrosomia Polyhydramnios Dyssegmental dysplasia (autosomal recessive) Bowing Severe shortening of all limbs Vertebral abnormalities Cleft palate Ectrodactyly-ectodermal-dysplasia-clefting syndrome (autosomal dominant) Hydronephrosis Cleft lip with or without cleft palate Absent digits Absent limbs Clinodactyly Renal anomalies Holoprosencephaly Ectrodactyly–tibial aplasia syndrome (autosomal dominant) Abnormal thumbs Absent digits Tibial aplasia Bifurcation of femora Ulna hypoplasia Ellis–Van Creveld syndrome (autosomal recessive) Renal agenesis Cardiac abnormalities Small chest Clubfoot Polydactyly—postaxial Dandy Walker malformation Short limbs Intrauterine growth restriction Fanconi syndrome (autosomal recessive) Cardiac abnormality Thumb hypoplasia/aplasia Microcephaly Radial hypoplasia Renal abnormalities Absent cavum septum pellucidum Cardiac defects Fetal infections Echogenic bowel Echogenic brain foci Hepatic calcifications Microcephaly Limb abnormalities (varicella) Mild ventriculomegaly Cataracts Microphthalmia Hydrops Intrauterine growth restriction Thick placenta Fetal methotrexate embryopathy Mesomelic shortness Micrognathia Intrauterine growth restriction Clubfeet Cleft palate Neural tube defects Fetal warfarin syndrome Nasal hypoplasia Rhizomelic ... 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