By Harold Chen MD, FAAP, FACMG (auth.)
Many beginning defects, even supposing infrequent separately, are encountered in scientific perform and feature now develop into treatable if adequately clinically determined. within the Atlas of Genetic prognosis and Counseling, Harold Chen, MD, stocks his nearly forty years of scientific genetics perform in a complete pictorial atlas of 203 genetic issues, malformations, and malformation syndromes. the writer presents a close define for every sickness, describing its genetics, uncomplicated defects, medical positive factors, diagnostic checks, and counseling concerns, together with recurrence chance, prenatal analysis, and administration. quite a few colour pictures of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the scientific positive factors of sufferers at diversified a long time, sufferers with various levels of severity, and the optimum diagnostic thoughts. The problems stated are supplemented through case histories and diagnostic affirmation by means of cytogenetics, biochemical, and molecular options, whilst on hand. additionally to be had in a CD-ROM variation (ISBN: 1-58829-974-5).
Authoritative and updated, the Atlas of Genetic prognosis and Counseling can help all physicians to appreciate and realize genetic ailments and malformation syndromes, and hence greater overview, information, and deal with affected sufferers.
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Additional resources for Atlas of Genetic Diagnosis and Counseling
Simonart’s bands d. Amniotic band disruption complex e. Congenital annular defects f. Congenital ring constrictions g. Constriction ring syndrome h. ADAM (Amniotic Deformity, Adhesion, Mutilations) complex i. TEARS (The Early Amnion Rupture Spectrum) GENETICS/BASIC DEFECTS 1. Streeter intrinsic theory a. An intrinsic defect of the subcutaneous germ plasm causes soft tissue to slough. The resulting external healing leads to the constriction ring b. Significant rate of associated anomalies as indirect proof of existence of some genetic force at work to cause the syndrome 2.
Absent iii. Two small separate masses c. Mouth: microstomia with vertical orientation d. Buccopharyngeal membrane: absent to present e. Tongue i. Small to absent body ii. Present in (hypo)pharynx f. Absent submandibular glands GENETICS/BASIC DEFECTS 1. Sporadic occurrence in majority of cases 2. Rare autosomal recessive inheritance 3. Possible autosomal dominant inheritance a. Supported by an observation of dysgnathia in mother and daughter b. Possibility of a defect in the OTX2 gene as the basis of the disorder 4.
High variability of phenotypic findings 2. Major features a. Neonatal chronic cholestasis i. Episodes of jaundice separated by periods of remission ii. Pruritus iii. Hepatomegaly iv. Splenomegaly: may be associated with portal hypertension v. Xanthoma: progressive and observed in: a) Extensor surface of the fingers b) Palmar creases c) Nape of the neck d) Anal folds e) Popliteal fossa f) Inguinal areas b. Facial features i. Broad prominent forehead ii. Deep-set, widely spaced eyes iii. Long, straight nose iv.