Smith's Recognizable Patterns of Human Malformation

Front Cover
IFC
Smith's Recognizable Patterns of Human Malformation
Copyright
Dedication to the First Edition
Acknowledgments
Contents
Smith's Recognizable Patterns of Human Malformation
Introduction - Dysmorphology Approach and Classification
Chapter 1: Recognizable Patterns of Malformation
	A: Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype
		DOWN SYNDROME (TRISOMY 21 SYNDROME)
		TRISOMY 18 SYNDROME
		TRISOMY 13 SYNDROME (PATAU SYNDROME)
		TRISOMY 8 SYNDROME (TRISOMY 8/NORMAL MOSAICISM)
		TRISOMY 9 MOSAIC SYNDROME
		TRIPLOIDY SYNDROME AND DIPLOID/TRIPLOID MIXOPLOIDY SYNDROME
		DELETION 3p SYNDROME
		DUPLICATION 3q SYNDROME
		DELETION 4p SYNDROME (WOLF-HIRSCHHORN SYNDROME)
		DELETION 4q SYNDROME
		DELETION 5p SYNDROME (CRI DU CHAT SYNDROME, PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME NUMBER 5 SYNDROME, 5p-SYNDROME)
		DELETION 9p SYNDROME (9p MONOSOMY, 9p-SYNDROME)
		DUPLICATION 9p SYNDROME (TRISOMY 9p SYNDROME)
		DUPLICATION 10q SYNDROME
		ANIRIDIA–WILMS TUMOR ASSOCIATION (WAGR SYNDROME)
		DELETION 11q SYNDROME (JACOBSEN SYNDROME)
		DELETION 13q SYNDROME (13q-SYNDROME)
		DUPLICATION 15q SYNDROME
		DELETION 18p SYNDROME (18p-SYNDROME)
		DELETION 18q SYNDROME (LONG ARM 18 DELETION SYNDROME, 18q-SYNDROME)
		CAT-EYE SYNDROME (COLOBOMA OF IRIS–ANAL ATRESIA SYNDROME)
		XYY SYNDROME
		XXY, XXXY, XXXXY SYNDROMES
		XXX, XXXX, XXXXX SYNDROMES
		45X SYNDROME (XO SYNDROME, TURNER SYNDROME)
	B: Deletion, Duplication, and Microduplication Syndromes Identifiable Using Molecular Technology
		1p36 DELETION SYNDROME (MONOSOMY 1p36 DELETION SYNDROME)
		2q31.1 MICRODELETION SYNDROME
		2q37 DELETION SYNDROME (2qter SUBTELOMERIC MICRODELETION SYNDROME)
		9q34.3 SUBTELOMERIC DELETION SYNDROME (KLEEFSTRA SYNDROME)
		15q24 MICRODELETION SYNDROME
		17q21 MICRODELETION SYNDROME (KOOLEN-DEVRIES SYNDROME)
		22q13 DELETION SYNDROME (PHELAN-MCDERMID SYNDROME)
		Xq DISTAL DUPLICATION OR DISOMY (Xq27-q28TERMINAL DUPLICATIONS INCLUDING MECP2 DUPLICATION)
	C: Very Small Stature, Not Skeletal Dysplasia
		CORNELIA DE LANGE SYNDROME (BRACHMANN–DE LANGE SYNDROME)
		RUBINSTEIN-TAYBI SYNDROME
		FLOATING-HARBOR SYNDROME
		SILVER-RUSSELLSYNDROME (SRS, RUSSELL-SILVER SYNDROME)
		SHORT SYNDROME
		3-M SYNDROME
		MULIBREY NANISM SYNDROME (PERHEENTUPA SYNDROME)
		BLOOM SYNDROME
		JOHANSON-BLIZZARD SYNDROME
		MICROCEPHALIC PRIMORDIAL DWARFING SYNDROMES (MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM [MOPD II], SECKEL SYNDROME, MOPD I)
		HALLERMANN-STREIFF SYNDROME (OCULO-MANDIBULO-FACIALDYSCEPHALY)
	D: Moderate Short Stature, Facial, ± Genital
		SMITH-LEMLI-OPITZ SYNDROME
		KABUKI SYNDROME
		AU-KLINE SYNDROME
		WILLIAMS SYNDROME (WILLIAMS-BEUREN SYNDROME)
		NOONAN SYNDROME
		COSTELLO SYNDROME
		CARDIO-FACIO-CUTANEOUS SYNDROME
		AARSKOG SYNDROME (FACIODENTOGENITAL SYNDROME)
		KBG SYNDROME
		ROBINOW SYNDROME (FETAL FACE SYNDROME)
		OPITZ G/BBB SYNDROME (HYPERTELORISM-HYPOSPADIAS SYNDROME, OPITZ-FRIAS SYNDROME, OPITZ OCULO-GENITO-LARYNGEAL SYNDROME)
	E: Senile-Like Appearance
		PROGERIA SYNDROME (HUTCHINSON-GILFORD SYNDROME)
		MANDIBULOACRAL DYSPLASIA
		WIEDEMANN-RAUTENSTRAUCH SYNDROME (NEONATAL PROGEROID SYNDROME)
		COCKAYNE SYNDROME
		XERODERMA PIGMENTOSA SYNDROME
		ROTHMUND-THOMSON SYNDROME (POIKILODERMA CONGENITALE SYNDROME)
	F: Early Overgrowth with Associated Defects
		FRAGILE X SYNDROME (FXS, MARTIN-BELL SYNDROME, MARKER X SYNDROME)
		SOTOS SYNDROME (CEREBRAL GIGANTISM SYNDROME)
		MALAN SYNDROME
		WEAVER SYNDROME (EZH2-RELATED OVERGROWTH)
		MARSHALL-SMITH SYNDROME
		BECKWITH-WIEDEMANN SYNDROME (EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME)
		SIMPSON-GOLABI-BEHMEL SYNDROME
	G: Unusual Brain and/or Neuromuscular Findings with Associated Defects
		AMYOPLASIA CONGENITA DISRUPTIVE SEQUENCE
		DISTAL ARTHROGRYPOSIS SYNDROME, TYPE 1
		PENA-SHOKEIR PHENOTYPE (FETAL AKINESIA/HYPOKINESIA SEQUENCE)
		CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME
		BOHRING-OPITZ SYNDROME (OBERKLAID-DANKS SYNDROME)
		LETHAL MULTIPLE PTERYGIUM SYNDROME
		NEU-LAXOVA SYNDROME
		RESTRICTIVE DERMOPATHY
		MECKEL-GRUBER SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA)
		PALLISTER-HALL SYNDROME
		GÓMEZ–LÓPEZ-HERNÁNDEZ SYNDROME (CEREBELLO-TRIGEMINAL DYSPLASIA, CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA)
		X-LINKED HYDROCEPHALUS SPECTRUM (X-LINKED HYDROCEPHALUS SYNDROME, MASA SYNDROME, L1 SYNDROME)
		HYDROLETHALUS SYNDROME
		WALKER-WARBURG SYNDROME (HARD ± E SYNDROME, WARBURG SYNDROME)
		MILLER-DIEKER SYNDROME (LISSENCEPHALY SYNDROME)
		NABLUS MASK-LIKE FACIAL SYNDROME (MICRODELETION 8Q22.1 SYNDROME)
		SMITH-MAGENIS SYNDROME (17P11.2 MICRODELETION SYNDROME)
		MENKES DISEASE (MENKES KINKY HAIR SYNDROME)
		PITT-HOPKINS SYNDROME
		ANGELMAN SYNDROME (HAPPY PUPPET SYNDROME)
		PRADER-WILLI SYNDROME
		COHEN SYNDROME
		PALLISTER-KILLIAN SYNDROME (PALLISTER MOSAIC SYNDROME, KILLIAN/TESCHLER-NICOLA SYNDROME, TETRASOMY 12P)
		FRYNS SYNDROME
		MATTHEW-WOOD SYNDROME (PDAC SYNDROME, SPEAR SYNDROME AND MICROPHTHALMIC SYNDROME 9 (MCOPS 9))
		ZELLWEGER SPECTRUM DISORDERS
		FREEMAN-SHELDON SYNDROME (WHISTLING FACE SYNDROME, DISTAL ARTHROGRYPOSIS TYPE 2A)
		MYOTONIC DYSTROPHY SYNDROME (MYOTONIC DYSTROPHY TYPE 1, STEINERT SYNDROME, DYSTROPHIA MYOTONICA)
		SCHWARTZ-JAMPEL SYNDROME (CHONDRODYSTROPHIA MYOTONIA)
		SCHINZEL-GIEDION SYNDROME
		ACROCALLOSAL SYNDROME
		3C SYNDROME (RITSCHER-SCHINZEL SYNDROME, CRANIO-CEREBELLO-CARDIAC SYNDROME)
		HECHT SYNDROME (TRISMUS PSEUDOCAMPTODACTYLY SYNDROME, DISTAL ARTHROGRYPOSIS TYPE 7, DUTCH-KENTUCKY SYNDROME)
		BARAITSER WINTER SYNDROME
	H: Facial Defects as Major Feature
		MOEBIUS SEQUENCE
		BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME (FAMILIAL BLEPHAROPHIMOSIS SYNDROME)
		OHDO/SAY/BARBER/BIESECKER/YOUNG-SIMPSON SYNDROME
		OCULOCEREBROFACIAL SYNDROME, KAUFMAN SYNDROME
		ROBIN SEQUENCE (PIERRE ROBIN SYNDROME)
		CLEFT LIP SEQUENCE
		VAN DER WOUDE SYNDROME (LIP PIT–CLEFT LIP SYNDROME)
		FRONTONASAL DYSPLASIA SEQUENCE (MEDIAN CLEFT FACE SYNDROME)
		BOSMA ARHINIA MICROPHTHALMIA SYNDROME
		FRASER SYNDROME (CRYPTOPHTHALMOS SYNDROME)
		MELNICK-FRASER SYNDROME (BRANCHIO-OTO-RENAL SYNDROME)
		BRANCHIO-OCULO-FACIAL SYNDROME
		DONNAI-BARROW SYNDROME (FACIO-OCULO-ACOUSTIC-RENAL SYNDROME, DBS/FOAR SYNDROME)
		CHARGE SYNDROME
		WAARDENBURG SYNDROME
		TREACHER COLLINS SYNDROME (MANDIBULOFACIAL DYSOSTOSIS,F RANCESCHETTI-KLEIN SYNDROME)
		MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
		MARSHALL SYNDROME
		CERVICO-OCULO-ACOUSTIC SYNDROME (WILDERVANCK SYNDROME)
	I: Facial-Limb Defects as Major Feature
		MILLER SYNDROME (GENEE-WIEDEMANN SYNDROME, POSTAXIAL ACROFACIAL DYSOSTOSIS SYNDROME)
		NAGER SYNDROME (NAGER ACROFACIAL DYSOSTOSIS SYNDROME)
		TOWNES-BROCKS SYNDROME
		LAURIN-SANDROW SYNDROME
		ORAL-FACIAL-DIGITAL SYNDROME (OFD SYNDROME, TYPE I)
		MOHR SYNDROME (OFD SYNDROME, TYPE II)
		22Q11.2 MICRODELETION SYNDROME (VELO-CARDIO-FACIAL SYNDROME, DIGEORGE SYNDROME, SHPRINTZEN SYNDROME)
		OCULODENTODIGITAL SYNDROME (OCULODENTODIGITAL DYSPLASIA)
		OCULO-FACIO-CARDIO-DENTAL SYNDROME
		LENZ MICROPHTHALMIA SYNDROME
		COFFIN-LOWRY SYNDROME
		X-LINKED α-THALASSEMIA/INTELLECTUAL DISABILITY SYNDROME (ATR-X SYNDROME)
		FG SYNDROME (OPITZ-KAVEGGIA SYNDROME)
		STICKLER SYNDROME (HEREDITARY ARTHRO-OPHTHALMOPATHY)
		CATEL-MANZKE SYNDROME (PALATODIGITAL SYNDROME–TYPE CATEL-MANZKE)
		LANGER-GIEDION SYNDROME (TRICHO-RHINO-PHALANGEAL SYNDROME, TYPE II; TRP II)
		TRICHO-RHINO-PHALANGEAL SYNDROME, TYPE I (TRP I)
		ECTRODACTYLY–ECTODERMAL DYSPLASIA–CLEFTING SYNDROME (EEC SYNDROME)
		ROBERTS SYNDROME (ROBERTS–SC PHOCOMELIA SYNDROME, SC PHOCOMELIA SYNDROME)
	J: Limb Defect as Major Feature
		POLAND SEQUENCE
		ULNAR-MAMMARY SYNDROME
		POPLITEAL PTERYGIUM SYNDROME (FACIO-GENITO-POPLITEAL SYNDROME)
		ESCOBAR SYNDROME (MULTIPLE PTERYGIUM SYNDROME)
		CHILD SYNDROME
		FEMORAL HYPOPLASIA–UNUSUAL FACIES SYNDROME (FEMORAL-FACIAL SYNDROME)
		SPLIT-HAND/FOOT WITH LONG BONE DEFICIENCY (SHFLD)
		ADAMS-OLIVER SYNDROME
		HOLT-ORAM SYNDROME (CARDIAC-LIMB SYNDROME)
		LEVY-HOLLISTER SYNDROME (Lacrimo-Auriculo-Dento-Digital Syndrome, LADD Syndrome)
		OKIHIRO SYNDROME (DUANE SYNDROME WITH UPPER LIMB ANOMALIES)
		FANCONI PANCYTOPENIA SYNDROME
		RADIAL APLASIA–THROMBOCYTOPENIA SYNDROME (TAR SYNDROME)
		DIAMOND-BLACKFAN ANEMIA (AASE SYNDROME)
	K: Osteochondrodysplasias
		ACHONDROGENESIS TYPES IA AND IB
		TYPE II ACHONDROGENESIS-HYPOCHONDROGENESIS (LANGER-SALDINO ACHONDROGENESIS, HYPOCHONDROGENESIS)
		FIBROCHONDROGENESIS
		ATELOSTEOGENESIS, TYPE I (GIANT CELL CHONDRODYSPLASIA)
		ATELOSTEOGENESIS, TYPE II
		ATELOSTEOGENESIS, TYPE III
		BOOMERANG DYSPLASIA
		SHORT RIB–POLYDACTYLY SYNDROMES
			SRP TYPE I
			SRP TYPE II
			SRP TYPE III
			SRP TYPE IV
		THANATOPHORIC DYSPLASIA
		JEUNE THORACIC DYSTROPHY (ASPHYXIATING THORACIC DYSTROPHY)
		CAMPOMELIC DYSPLASIA
		ACHONDROPLASIA
		HYPOCHONDROPLASIA
		PSEUDOACHONDROPLASIA (PSEUDOACHONDROPLASTIC SPONDYLOEPIPHYSEAL DYSPLASIA)
		ACROMESOMELIC DYSPLASIA (ACROMESOMELIC DYSPLASIA, TYPE MAROTEAUX)
		SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
		KNIEST DYSPLASIA
		DYGGVE-MELCHIOR-CLAUSEN SYNDROME
		SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (KOZLOWSKI SPONDYLOMETAPHYSEAL CHONDRODYSPLASIA)
		METATROPIC DYSPLASIA (METATROPIC DWARFISM SYNDROME)
		GELEOPHYSIC DYSPLASIA
		CHONDROECTODERMAL DYSPLASIA (ELLIS–VAN CREVELD SYNDROME)
		DIASTROPHIC DYSPLASIA (DIASTROPHIC NANISM SYNDROME)
		X-LINKED RECESSIVE SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
		MULTIPLE EPIPHYSEAL DYSPLASIA
		METAPHYSEAL DYSPLASIA, SCHMID TYPE
		METAPHYSEAL DYSPLASIA, MCKUSICK TYPE (CARTILAGE-HAIRHYPOPLASIA SYNDROME)
		CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT TYPE (CONRADI-HÜNERMANN SYNDROME)
		AUTOSOMAL RECESSIVE CHONDRODYSPLASIA PUNCTATA (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC TYPE)
		HYPOPHOSPHATASIA (PERINATAL LETHAL HYPOPHOSPHATASIA)
		HAJDU-CHENEY SYNDROME (CHENEY SYNDROME, ACRO-OSTEOLYSIS SYNDROME, ARTHRO-DENTO-OSTEO DYSPLASIA)
		CRANIOMETAPHYSEAL DYSPLASIA
		OTO-PALATO-DIGITAL SYNDROME, TYPE I (OPD1, TAYBI SYNDROME)
		OTO-PALATO-DIGITAL SYNDROME, TYPE II
		MELNICK-NEEDLES SYNDROME (OSTEODYSPLASTY MELNICK NEEDLES)
		FRONTOMETAPHYSEAL DYSPLASIA
	L: Osteochondrodysplasia with Osteopetrosis
		OSTEOPETROSIS: AUTOSOMAL RECESSIVE—LETHAL (INFANTILE MALIGNANT OSTEOPETROSIS)
		LENZ-MAJEWSKI HYPEROSTOSIS SYNDROME
		PYKNODYSOSTOSIS
		CLEIDOCRANIAL DYSPLASIA
	M: Craniosynostosis Syndromes
		SAETHRE-CHOTZEN SYNDROME (ACROCEPHALOSYNDACTYLY TYPE III)
		PFEIFFER SYNDROME (PFEIFFER-TYPE ACROCEPHALOSYNDACTYLY)
		APERT SYNDROME (ACROCEPHALOSYNDACTYLY TYPE 1)
		CROUZON SYNDROME (CRANIOFACIAL DYSOSTOSIS)
		FGFR3-ASSOCIATED CORONAL SYNOSTOSIS SYNDROME (MUENKE SYNDROME)
		CURRY-JONES SYNDROME
		CRANIOFRONTONASAL DYSPLASIA
		CARPENTER SYNDROME
		GREIG CEPHALOPOLY SYNDACTYLY SYNDROME
		ANTLEY-BIXLER SYNDROME (MULTISYNOSTOTIC OSTEODYSGENESIS, TRAPEZOIDOCEPHALY/MULTIPLE SYNOSTOSIS)
		BALLER-GEROLD SYNDROME (CRANIOSYNOSTOSIS–RADIAL APLASIA SYNDROME)
	N: Other Skeletal Dysplasias
		MULTIPLE SYNOSTOSIS SYNDROME (SYMPHALANGISM SYNDROME)
		SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
		LARSEN SYNDROME
		MULTIPLE EXOSTOSES SYNDROME (DIAPHYSEAL ACLASIS, EXTERNAL CHONDROMATOSIS SYNDROME)
		NAIL-PATELLA SYNDROME (HEREDITARY OSTEO-ONYCHODYSPLASIA)
		MEIER-GORLIN SYNDROME
		CANTÚ SYNDROME
		LÉRI-WEILL DYSCHONDROSTEOSIS
		ACRODYSOSTOSIS
		ALBRIGHT HEREDITARY OSTEODYSTROPHY (PSEUDOHYPOPARATHYROIDISM, PSEUDOPSEUDOHYPOPARATHYROIDISM)
		YUNIS-VARÓN SYNDROME
		DESBUQUOIS DYSPLASIA
		SAUL WILSON SYNDROME
	O: Storage Disorders
		MUCOLIPIDOSIS II (LEROY I-CELL DISEASE)
		MUCOPOLYSACCHARIDOSIS I H, I H/S, 1 S (HURLER SYNDROME,HURLER-SCHEIE SYNDROME, SCHEIE SYNDROME)
		HUNTER SYNDROME (MUCOPOLYSACCHARIDOSIS II)
		SANFILIPPO SYNDROME (MUCOPOLYSACCHARIDOSIS III, TYPES A, B, C, AND D)
		MORQUIO SYNDROME (MUCOPOLYSACCHARIDOSIS IV, TYPES A AND B)
		MUCOPOLYSACCHARIDOSIS VII (SLY SYNDROME, SS-GLUCURONIDASE DEFICIENCY)
	P: Connective Tissue Disorders
		MARFAN SYNDROME
		BEALS SYNDROME (CONGENITAL CONTRACTURAL ARACHNODACTYLY SYNDROME)
		SHPRINTZEN-GOLDBERG SYNDROME (MARFANOID-CRANIOSYNOSTOSIS SYNDROME)
		EHLERS-DANLOS SYNDROMES
		VASCULAR EHLERS-DANLOS SYNDROME (vEDS)
		OSTEOGENESIS IMPERFECTA
		FIBRODYSPLASIA OSSIFICANS PROGRESSIVA SYNDROME
		MYHRE SYNDROME
	Q: Hamartoses
		STURGE-WEBER SYNDROME
		NEUROCUTANEOUS MELANOSIS
		LINEAR SEBACEOUS NEVUS SYNDROME (NEVUS SEBACEUS OF JADASSOHN, EPIDERMAL NEVUS SYNDROME)
		INCONTINENTIA PIGMENTI SYNDROME (BLOCH-SULZBERGER SYNDROME)
		HYPOMELANOSIS OF ITO (INCONTINENTIA PIGMENTOSA ACHROMIANS)
		TUBEROUS SCLEROSIS SYNDROME (TUBEROUS SCLEROSIS COMPLEX)
		NEUROFIBROMATOSIS SYNDROME
		MCCUNE-ALBRIGHT SYNDROME
		KLIPPEL-TRENAUNAY SYNDROME
		PARKES WEBER SYNDROME (CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION SYNDROME (CV-AVM), RASA1 RELATED DISORDERS)
		MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYDACTYLYSYNDROME (Macrocephaly-Cutis Marmorata Telangiectasia Congenita, Megalencephaly Polymicrogyria-Polydactyly Hydrocephalus [MPPH] Syndrome)
		PROTEUS SYNDROME
		ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
		BANNAYAN-RILEY-RUVALCABA SYNDROME (RUVALCABA-MYHRE SYNDROME, RILEY-SMITH SYNDROME, BANNAYAN SYNDROME)
		HEREDITARY HEMORRHAGIC TELANGIECTASIA (OSLER HEMORRHAGIC TELANGIECTASIA)
		MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2B (MULTIPLE NEUROMA SYNDROME)
		GORLIN SYNDROME (NEVOID BASAL CELL CARCINOMA SYNDROME)
		NOONAN SYNDROME WITH MULTIPLE LENTIGINES (LEOPARD SYNDROME, MULTIPLE LENTIGINES SYNDROME)
		GOLTZ SYNDROME (FOCAL DERMAL HYPOPLASIA)
		MICROPHTHALMIA–LINEAR SKIN DEFECTS SYNDROME (MIDAS SYNDROME)
	R: Ectodermal Dysplasias
		HYPOHIDROTIC ECTODERMAL DYSPLASIA
		TP-63RELATED ECTODERMAL DYSPLASIA (ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE SYNDROME (AEC SYNDROME) AKA HAY WELLS SYNDROME, ALSO INCLUDING RAPP-HODGKIN SYNDROME.)
		FINLAY-MARKS SYNDROME (SCALP-EAR-NIPPLE [SEN] SYNDROME)
		TRICHO-DENTO-OSSEOUS SYNDROME (TDO SYNDROME)
		CLOUSTON SYNDROME
		CRANIOECTODERMAL DYSPLASIA (SENSENBRENNER SYNDROME)
		GAPO SYNDROME
		PACHYONYCHIA CONGENITA SYNDROME (DECIDE TO SUPPRESS DEPENDING ON SPACE)
		SENTER-KID SYNDROME (DECIDE TO SUPPRESS DEPENDING ON SPACE)
	S: Environmental Agents
		FETAL ALCOHOL SPECTRUM DISORDERS
		FETAL HYDANTOIN SYNDROME (FETAL DILANTIN SYNDROME)
		FETAL VALPROATE SYNDROME
		FETAL WARFARIN SYNDROME (WARFARIN EMBRYOPATHY, FETAL COUMARIN SYNDROME)
		FETAL AMINOPTERIN/METHOTREXATE SYNDROME
		RETINOIC ACID EMBRYOPATHY (ACCUTANE EMBRYOPATHY)
		METHIMAZOLE/CARBIMAZOLE EMBRYOPATHY
		MYCOPHENOLATE MOFETIL EMBRYOPATHY
		FETAL VARICELLA SYNDROME
		HYPERTHERMIA-INDUCED SPECTRUM OF DEFECTS
		CONGENITAL ZIKA SYNDROME (FETAL BRAIN DISRUPTION SEQUENCE INCLUDED)
	T: Miscellaneous Syndromes
		COFFIN-SIRIS SYNDROME
		BÖRJESON-FORSSMAN-LEHMANN SYNDROME
		ALAGILLE SYNDROME (ARTERIOHEPATIC DYSPLASIA)
		BARDET-BIEDL SYNDROME
		WIEDEMANN–STEINER SYNDROME
		AXENFELD-RIEGER SYNDROME
		PETERS-PLUS SYNDROME
		MOWAT-WILSON SYNDROME
		CEREBRO-COSTO-MANDIBULAR SYNDROME (CCMS)
		JARCHO-LEVIN SYNDROME
		BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY SYNDROME (CONGENITAL GENERALIZED LIPODYSTROPHY)
		KOSAKI OVERGROWTH SYNDROME
		DISTICHIASIS-LYMPHEDEMA SYNDROME
		HENNEKAM LYMPHEDEMA-LYMPHANGIECTASIA SYNDROME
		VICI SYNDROME
	U: Miscellaneous Sequences
		LATERALITY SEQUENCES
		HOLOPROSENCEPHALY SEQUENCE
		MENINGOMYELOCELE, ANENCEPHALY, INIENCEPHALY SEQUENCES
		OCCULT SPINAL DYSRAPHISM SEQUENCE (TETHERED CORD MALFORMATION SEQUENCE)
		SEPTO-OPTIC DYSPLASIA SEQUENCE
		KLIPPEL-FEIL SEQUENCE
		EARLY URETHRAL OBSTRUCTION SEQUENCE (PRUNE BELLY SYNDROME)
		EXSTROPHY OF BLADDER SEQUENCE (BLADDER EXSTROPHY–EPISPADIUS COMPLEX)
		EXSTROPHY OF CLOACA SEQUENCE (OEIS COMPLEX)
		URORECTAL SEPTUM MALFORMATION SEQUENCE
		OLIGOHYDRAMNIOS SEQUENCE (POTTER SYNDROME)
		SIRENOMELIA SEQUENCE
		CAUDAL DYSPLASIA SEQUENCE (CAUDAL REGRESSION SYNDROME)
		AMNION RUPTURE SEQUENCE
		LIMB–BODY WALL COMPLEX
	V: Spectra of Defects
		OCULO-AURICULO-VERTEBRAL SPECTRUM (FIRST AND SECOND BRANCHIAL ARCH SYNDROME, FACIO-AURICULO-VERTEBRAL SPECTRUM, HEMIFACIAL MICROSOMIA, GOLDENHAR SYNDROME)
		OROMANDIBULAR-LIMB HYPOGENESIS SPECTRUM (HYPOGLOSSIA-HYPODACTYLY SYNDROME, AGLOSSIA-ADACTYLY SYNDROME, GLOSSOPALATINE ANKYLOSIS SYNDROME, FACIAL-LIMB DISRUPTIVE SPECTRUM)
		CONGENITAL MICROGASTRIA–LIMB REDUCTION COMPLEX (MICROGASTRIA, LIMB DEFECTS, SPLENIC ABNORMALITIES)
		STERNAL MALFORMATION–VASCULAR DYSPLASIA SPECTRUM
		MONOZYGOTIC TWINNING AND STRUCTURAL DEFECTS—GENERAL
	W: Miscellaneous Associations
		VACTERL ASSOCIATION
		MURCS ASSOCIATION
Chapter 2: Genetics, Genetic Counseling, and Prevention
	GENETIC IMBALANCE CAUSED BY GROSS CHROMOSOMAL ABNORMALITIES AND SUBMICROSCOPIC GENOMIC IMBALANCE
		Identifying Visible Chromosome Abnormalities: The Karyotype
		Identifying Smaller Genomic Imbalance: FISH, CGH, Arrays, and MLPA
		The Impact of Chromosomal and Genomic Imbalance during Development
		Abnormal Number of Chromosomes (Aneuploidy)
		Structural Chromosomal and Genomic Rearrangements
		Incidence of Chromosomal Abnormalities and Genomic Rearrangements in Patients with Intellectual Disability
		Interpretation of the Causality of Genomic Imbalance
		Indications and Sequence of Chromosomal and Genomic Studies
	GENETIC COUNSELING FOR CHROMOSOMAL AND GENOMIC ABNORMALITIES
		Autosomal Trisomy Syndromes
		Other Chromosomal Disorders
			45,X Syndrome
			Any Case with a Visible Deletion, Duplication, or Unbalanced Translocation
			Microdeletion and Microduplication Syndromes
	GENETIC IMBALANCE CAUSED BY SINGLE-GENE DISORDERS
		Identifying Sequence Variation: Traditional Sanger Sequencing, Next-Generation Sequencing, Exome Sequencing, Whole Genome Sequencing
		Autosomal Dominant Disorders
		Autosomal Recessive Disorders
		X-Linked Disorders
		Parent-of-Origin Effects
		Unstable DNA Mutations
		Mitochondrial Mutations
	GENETIC COUNSELING FOR SINGLE-GENE DISORDERS
		Autosomal Dominant Disorders
		Autosomal Recessive Disorders
		X-Linked Recessive Disorders
		X-Linked Dominant Inheritance
		Mitochondrial Inheritance
	MULTIFACTORIAL INHERITANCE
	GENETIC COUNSELING FOR DEFECTS THAT ARE A RESULT OF MULTIFACTORIAL INHERITANCE
	PRENATAL DIAGNOSIS
		Screening Approaches for the General Pregnant Population
			Chromosomal and Genomic Abnormalities
		Single-Gene Disorders
		Multifactorial Conditions, Including Apparently Isolated Malformations
		Prenatal Diagnostic Approaches for Specific Disorders
			Chromosomal and Genomic Abnormalities
		Single-Gene Disorders
		Multifactorial Conditions
	Suggested Readings
Chapter 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes
	CALVARIUM
	DERMAL RIDGE PATTERNS (DERMATOGLYPHICS)
		Aberrant Patterning
			Distal Axial Palmar Triradius
			Open Field in Hallucal Area (Arch Tibial)
			Lack of Ridges
			Other Patterns
		Unusual Frequency or Distribution of Patterns on the Fingertips
			High Frequency of Low-Arch Configurations
			High Frequency of Whorl Patterning
			Unusual Distribution, Especially of Radial Loop Patterns
	HAIR: ORIGIN AND RELEVANCE OF ABERRANT SCALP AND UPPER FACIAL HAIR PATTERNING AND GROWTH
		Hair Directional Patterning
			Normal Development and Relevance
			Relevance and Nature of Aberrant Scalp and Upper Facial Hair Directional Patterning
		Hair Growth Patterns
			Normal Development and Relevance
			Nature and Relevance of Aberrant Facial Hair Growth Patterns
	OTHER CUTANEOUS ANOMALIES
	References
Chapter 4: Normal Standards
	STANDARDS FOR HEIGHT AND WEIGHT
		Notes on Use
	OTHER STANDARDS
Appendix: Pattern of Malformation Differential Diagnosis by Anomalies
Index
	A
	B
	C
	D
	E
	F
	G
	H
	I
	J
	K
	L
	M
	N
	O
	P
	Q
	R
	S
	T
	U
	V
	W
	X
	Y
	Z
IBC