This extensively illustrated reference work is designed for health professionals who care for newborn infants including neonatologists, pediatricians, NICU nurses, pediatric neurologists, pediatric surgeons, geneticists, and genetic counselors. It describes the most common malformations and draws the information needed for a full diagnostic evaluation and discussion of treatment options and genetic counseling from many sources.
The text also covers minor anomalies, birthmarks and includes dozens of charts of anthropologic measurements, material that is needed in the initial physical examination to describe an infant's physical features. With over 400 photographs and original illustrations, Dr. Holmes has created an authoritative, well organized, and easy to use reference guide to common malformations of the infant, which will become an invaluable tool in hospitals and neonatal clinics across the world.
The text is grounded in research gathered from the Active Malformations Surveillance Program conducted since 1972 at Brigham and Women's Hospital in Boston, Massachusetts. The program began as a three year study which monitored over 18,155 births and aimed to determine the frequency of many major malformations.
The study was expanded to include minor physical features and birth marks. This text includes many never-before published photographs from these studies, as well as other major research findings in this area.
Preface Chapter 1: The Approach to the Malformed Newborn Chapter 2: Amniotic bands Chapter 3: Bowel atresias i. Duodenal atresia ii. Esophageal atresia iii. Imperforate anus iv. Jejunoileal atresia Chapter 4: Chromosome abnormalities: Introduction i. Trisomy 21 ii. Trisomy 18 iii. Trisomy 13 Chapter 5: Cleft lip and palate Chapter 6: Cleft palate Chapter 7: Club foot Chapter 8: Cryptorchidism Chapter 9: Congenital Diaphragmatic hernia Chapter 10: Gastroschisis Chapter 11: Heart defects Chapter 12: Hip dysplasia Chapter 13: Holoprosencephaly Chapter 14: Hypospadias Chapter 15: Limb malformations i. Polydactyly a. postaxial b. preaxial ii. Polysyndactyly iii. Longitudinal deficiency a. preaxial, absence of thumb/radius b. preaxial, absence of first toe/tibia c. postaxial, absence of fifth finger/ulna d. postaxial, absence of fifth toe/fibula iv. Split-hand/split-foot v. Syndactyly vi. Terminal transverse limb defects vii. Central digit hypoplasia Chapter 16: Microphthalmia/Anophthalmia Chapter 17: Microtia Chapter 18: Neural tube defects i. anencephaly ii. cloacal exstrophy iii. encephalocele iv. iniencephaly v. lipomeningocele vi. meningocele vii. myelomeningocele Chapter 19: Omphalocele Chapter 20: Renal agenesis/dysgenesis Chapter 21: Skeletal dysplasias Chapter 22: Vertebral anomalies: hemivertebra Chapter 23: Patterns of Malformations i. Non-random clusters a. Cantrell Pentalogy b. CHARGE Association c. hemifacial microsomia d. otocephaly e. Poland anomaly f. urethral obstruction: prune g. belly syndrome h. vii. VACTERL Association Chapter 24: Twinning: Introduction i. acardia ii. conjoined twins iii. sirenomelia iv. twin-twin transfusion Chapter 25: Minor Anomalies/Normal Variations Chapter 26: Birth Marks Chapter 27: Anthropologic measurements
Lewis B. Holmes, MD, is an internationally respected expert in genetics and teratology. He is Professor of Pediatrics at Harvard Medical School and Chief of the Genetics and Teratology Unit, Pediatric Services, Massachusetts General Hospital in Boston.
Reviews for Common Malformations
An excellent consultation tool for experienced clinicians, medical students, medical genetics residents, as well as paediatricians who take care of newbornsDr. Holmes is a distinguished figure in dysmorphology and his authority in the area is unquestionablethe book surpasses all expectations. Luis F. Escobar, Director of Medical Genetics, St.Vincent Hospital and Health Care Center, Indianapolis, USA
