By Michael Baraitser, Robin M. Winter
The 1st 5 chapters of this publication conceal the fundamental rules of scientific genetics and contain many helpful diagrams. the remainder of the ebook is a photographic encyclopaedia of the entire recognized genetic issues, grouped by way of structures.
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Additional info for A Colour Atlas of Clinical Genetics
Hemizygous males probably die in utero. 203 N. B. 203-206. Oro-facio-digital syndrome type 2 (Mohr syndrome) is distinguished by autosomal recessive inheritance, the presence of conductive deafness, pre-axial polydactyly and fatty tumours of the tongue. 54 204 205 206 207 207 HMC syndrome (hypertelorism-microtiaeleCting). Note: Hypertelorism, facial clefting and small dysplastic ears. Other features: Congenital heart defects, renal anomalies. Inheritance: Possibly autosomal recessive. 208 208-211 Coffin-Siris syndrome.
Other features: Neonatal death, agenesis of the corpus callosum. Some infants with this condition have bizarre facial features with absent eyelids and nose. The hands and feet can be grossly swollen. Inheritance: Autosomal recessive. 110 and 111 Pena Shokeir syndrome. Note: Facial haemangioma, depressed nasal tip and hirsute forehead. Gross joint contractures. Other features: Polyhydramnios, pulmonary hypoplasia and neonatal death. Inheritance: Autosomal recessive. 36 112 111 112 Larsen syndrome.
Mesomelia of upper limbs, stubby hands and micropenis. Other features: Hemivertebrae, intelligence usually normal. Inheritance: Autosomal recessive and autosomal dominant families described. 37 116 117 118 119 116-119 Fibrodysplasia ossificans progressiva. Note: Short hallux with valgus deformity and abnormalities of the other toes. Short first metacarpal and hypoplasia of the phalanges. Note ossification in the soft tissues of the chest wall (arrowed) . Inheritance: Autosomal dominant pedigrees described, although most cases are sporadic.