Volume 2

Principles and practice of medical genetics / editors, Alan E.H. Emery, David L. Rimoin ; assistant editor, Jeffrey A. Sofaer ; editorial assistant, A.P. Garber ; foreword by Victor A. McKusick.

Date:
1983
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Principles and practice of medical genetics / editors, Alan E.H. Emery, David L. Rimoin ; assistant editor, Jeffrey A. Sofaer ; editorial assistant, A.P. Garber ; foreword by Victor A. McKusick. Source: Wellcome Collection.

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    Peptic ulcer (conni.) subclinical markers, 872-874 systemic mastocytosis, 868-869, 875 tremor-nystagmus-ulcer syndrome, 869, 875 twin studies, 864, 865 Pericentric inversion chromosomes terminology, 167 and glaucoma, 493 Periodic paralysis, 426, 438, 462-468 clinical features of weakness, hyperpotassaemia, 466 hypopotassaemia, 462 definition, 462 differential diagnosis, 468 familial, 463-466 cause, 463 clinical features, 463 histology of muscle, 465 laboratory findings, 464-465 pathophysiology, 465 prevalence, 463 prognosis, 466 symptoms, signs, 464 treatment, 465-466 hyperaldosteronism, 463 hyperpotassaemia, 466 hyperthyroidism, 463 hypopotassaemia, 462 causes, 462-463 normokalaemic, 468 Periodontal form of Ehlers-Danlos syndrome, 848 Peripheral neuropathies see Neuropathies, peripheral Pernicious anaemia, 1060-1061 congenital, 1061 juvenile, 1061 Peroneal muscular atrophy, 303 see also Charcot-Marie-Tooth disease Peroxidase system defects (organification defects), 1154-1155 abnormal thyroid, 1155 coupling defect, 1155 deficient H,0, generation, 1155 deficient thyroid, 1155 Pendred syndrome, 1155 Perrin syndrome and holoprosencephaly, 578 Persistent hyperplastic primary vitreous differentiation from retinoblastoma, 546 and glaucoma, 491 Persistent left superior vena cava syndrome, cleft palate, 603 Personality in Klinefelter syndrome, 204 in Turner syndrome, 195 47,XXX individuals, 211 47,XYY individuals, 213 Pes planus in Marfan syndrome, 823 Pesticides, and fetal anomalies, 137 Peters anomaly corneal findings, 507 and glaucoma, 488 Petit mal, 251 recurrent risks, 251 twin studies, 251 Peutz-Jeghers syndrome, 891-892 genetics, 1414, 1415 hyperpigmentation, 642 differentiation, 642 Pfaundler-Hurler disease see Hurler disease Pfeiffer syndrome, 790 and cloverleaf skull, 589 and craniosynostosis, 585 Phaeochromocytoma and diabetes, 1184 and medullary thyroid cancer, 1170 in mucosal neuroma syndrome, 1408-1409 with pancreatic islet cell tumours, 1409 in Sipple syndrome, 1408 Phaeomelanin biochemical pathway, 623 characteristics, 622 Phagocytic activities, 1116-1118 clinical disorders of bactericidal function, 1119 of function, 1124 of movement, 1124 disorders, 111-6-1126 historical factors, 1116 Phagocytosis, 1118 Phakomatoses, 313-320 classification, 313 definition, 313 specific disorders, 313 see also specific disorders Pharmacogenetics, 1389-1400 drug metabolism, 1389-1394 HLA and adverse reactions, 1397 inter-ethnic variability, 1398 pharmacologic effects, 1394-1397 quantitative genetics, 1397 PHC syndrome, 634 Phenacetin, metabolism, 1394 Phencyclidine-induced delusions, differentiation from schizophrenia, 323 Phenobarbitone, genetic control of metabolism, 1397 Phenocopies, and counselling, 1428 Phenothiazines in schizophrenia, 322 teratogenicity, 144 Phenotypes evolution in partial 5p monosomy, 186 intersexes, 207-208 Phenylalanine hydroxylase reaction, 1241 metabolism, disorders, 1241 Phenylketonuria and albinoidism, 633 atypical, with dihydropteridine reductase deficiency, 1243 classic, 1241-1242 inheritance, 70 maternal, 1242-1243 and CHD in infant, 953 risks to fetus, 146 newborn genetic screening, 1437-1438 therapy, 1243 transient, 1243 Phenylthiocarbamide (PTC, phenylthiourea) taste-testing, 1395 Phenytoin, during pregnancy, and epilepsy, 252 see Diphenylhydantoin Philadelphia chromosome in leukaemia, 1078-1079 Phillips-Griffiths syndrome, cleft palate, 603 Phobic disorders, differentiation from schizophrenia, 323 Phosphoenolpyruvate carboxykinase deficiency, 1280 Phosphofructokinase (PK) deficiency (type VII glycogenosis), 386, 1051, 1052 muscle, 1277 Phosphoglycerate kinase deficiency, 1051, 1052 Phosphoribosylpyrophosphate in Lesch-Nyhan disease, 1291 increased synthetase, 1292-1293 Phosphorus abnormalities, 729 Phosphorylase kinase deficiency, 1275 Phosphorylating activating deficiencies, 1275 Photophobia in albinism, 624 and oculocutaneous albinism, 630 Photosensitivity, porphyrias, 696, 697 Phytanic acid degradation, 279 lipidosis see Refsum disease restriction in Refsum disease, 278, 280 storage disease, 300, 663 clinical features, 663 Phytohaemaglutinin, 50 Pick disease, 338-339 clinical characteristics, 338 transmissible agent, 339 Piebald trait, 634 autosomal dominant, ataxia and deafness, 637 Piebaldness autosomal recessive, 636 and deafness, 567 Pierre-Marie syndrome, inheritance pattern, 524 Pierre Robin syndrome developmental problems, 157 and orofacial clefting, 595 and strabismus, 559 Pigmentary retinopathy and hearing loss, 526 Pigmentation abnormalities, 622-652 in Hirschsprung disease, 888 hyperpigmentation disorders, 637-644 hypopigmentation disorders, 624-637 diffuse, 639-641 genetic control, 622 in hepatomegaly, 1329 Pili torti, 693 and copper metabolism, 1319, 1323 Pilotto syndrome, cleft lip-palate, 598 Pineal gland tumours, 1410