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
