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 from many sources the information needed for a full diagnostic evaluation and discussion of treatment options and genetic counseling. 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.
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1 The Approach to the Malformed Newborn
2 Amniotic Bands
3 Bowel Atresias
4 Chromosome Abnormalities
5 Cleft Lip and Palate
6 Cleft Palate
7 Club Foot
8 Congenital Diaphragmatic Hernia
18 Neural Tube Defects
20 Renal AgenesisDysgenesis
21 Skeletal Dysplasias
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absence affected infants amniotic band analysis anencephaly arrow artery associated malformations autosomal dominant autosomal recessive bilateral Birth Def Res chromosome abnormalities cleft lip cleft palate Clin Genet clinical cloacal exstrophy common congenital cryptorchidism deficiency deformity developmental diaphragmatic hernia distal dysplasia elective terminations encephalocele esophageal atresia etiology exposure factors females fetal fetus fetuses FIGURE fingers gastroschisis gene Gestational Age heart defects hemivertebrae Holmes LB holoprosencephaly Hum Genet hypoplasia hypoplastic hypospadias identified imperforate anus intestine isolated limb defects liveborn males maternal Mendelian Inheritance microphthalmia microtia minor anomalies monozygotic twins monozygous mothers multiple anomalies mutations myelomeningocele neural tube defects nevus newborn infants normal occurs omphalocele parents Pediatr Surg phenotype polydactyly population-based postaxial polydactyly preaxial polydactyly pregnancy prevalence rate recurrence risk renal agenesis reported sirenomelia spina bifida syndactyly syndrome Teratology thumb tibia tion toes trisomy 18 trisomy 21 ultrasound unilateral VACTERL vascular vertebrae White Black Mixed