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Scarring (Late Complication) Fistula Formation Draining Sinuses - Late Complication Preponderance of Affected Females to Males Mutations in the T Box 5 Gene Asymmetric Involvement Radial-Ulnar Anomalies Upper Extremity Phocomelia Absent Pectoralis Major Muscle Complete Penetrance Normal Range of Expanded Repeats 9 29 Hd Range 36 121 Juvenile Rigid Early-Onset Form More Often Paternally Inherited Prevalence Much Higher in Whites than Blacks Neuronal Loss and Gliosis in Caudate and Putamen Progressive Clinical Course with Onset in Childhood Impairment of Dark Adaptation with Age 'Empty' Vitreous with Fibrillary Condensations Peripheral Traction Retinal Detachment Mild Myopia Visual Field Defects (Middle Age) Rarely Produces Clinical Jaundice Common (up to 7% of the Population) Hepatic UDP-Glucuronyl Transferase Activity Decreased Mutations in the LDLR Gene Planar Xanthomas Onset of Disease in Late Childhood Broad Cortex of Long Bones Mild Sclerosis Mild Vertebral Body Sclerosis Decreased Gonial Angle - Endosteal Hyperostosis Gonial Angle Increased Loss of Diploe Endosteal Sclerosis of Cranium Mandibular Bone Density Increased Calvarial Density Increased Mandible Elongated Resistance of Bone to Fractures Flattened Forehead (Adolescence) Mild Clavicular Sclerosis Mild Rib Sclerosis Weak Hoarse Cry Abnormality of the Ureter Posterior Labia Majora Splayed Diastolic Blood Pressure Increased Systolic Blood Pressure Elevated Body Temperatures Elevated to 42°C Precipitated by General Anesthesia Mutations in the RYR1 Gene Mutation in the Early Growth Response Protein 2 Gene Mutation in the PRX Gene Mutation in the MPZ Gene Neonatal Severe Hyperparathyroidism in Homozygotes Mutations in the Calcium Sensing Receptor Gene Mild Frontal Bossing Urine Phosphoethanolamine Increased Deletion of Chromosome 18p11.2 Upturned Nostrils Multiple Buccal Frenula Simple Auricles Pituitary Aplasia or Dysplasia Aplasia or Dysplasia of Thyroid Congenital Nasal Pyriform Aperture Stenosis Midnasal Atresia or Stenosis Single Median Maxillary Central Incisor Torus Palatinus Mild Thrombocytopenia (before Age 50) Limited Movement of the Wrist Pectoralis Major Hypoplasia 75% of Affected Individuals Are Female Partial Deletion of Long Arm of Chromosome 11 Anteverted Nostril Mutations in the TBX4 Gene Short Fourth and Fifth Rays Femoral Necks Elongated Infra-Acetabula Axe-Cut Notches Flat, Wide Proximal Femoral Epiphyses Hypoplasia of the Lesser Trochanter Left Side Involvement Associated with Serious Cardiac Defect Right Side Affected Greater than Left Side Mutations in the Emopamil Binding Protein Gene Single Coronary Ostium Ipsilateral Lung Hypoplasia Unilateral Alopecia Sharp Midline Demarcation 8-9-Cholestenol Elevated 8-Dehydrocholesterol Increased Ipsilateral Epiphyseal Stippling Knee Webbing Unilateral Hypomelia (Digital Hypoplasia to Complete Limb Absence) Unilateral Pelvic Hypoplasia Ipsilateral Mandibular Hypoplasia Mild Intrauterine Growth Retardation Unilateral Clavicular, Scapular, Rib Hypoplasia Ipsilateral Renal Agenesis Ipsilateral Fallopian Tube Hypoplasia Ipsilateral Ovarian Hypoplasia Ipsilateral Cranial Nerve Hypoplasia Ipsilateral Brain Hypoplasia Ipsilateral Adrenal Gland Hypoplasia Ipsilateral Thyroid Gland Hypoplasia