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Smith's Recognizable Patterns of Human Malformation
- 8th Edition - March 2, 2021
- Authors: Kenneth Lyons Jones, Marilyn Crandall Jones, Miguel del Campo
- Language: English
- Hardback ISBN:9 7 8 - 0 - 3 2 3 - 6 3 8 8 2 - 1
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 6 3 8 8 3 - 8
Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provi… Read more
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Request a sales quoteLong known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.
Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more.
Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders.
Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators.
Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents.
Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
pediatricians, neonatologists, family medicine, geneticists, nurse practitioners, and physicians assistants
- Cover image
- Title page
- Table of Contents
- Copyright
- Dedication to the First Edition
- Acknowledgments
- Introduction. Dysmorphology Approach and Classification
- Chapter 1. Recognizable Patterns of Malformation
- Chapter 1. Recognizable Patterns of Malformation
- A. Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype
- 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-de Vries Syndrome)
- 22q13 Deletion Syndrome (Phelan-McDermid Syndrome)
- Xq Distal Duplication or Disomy (Xq27-q28 Terminal 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-Russell Syndrome (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-facial Dyscephaly)
- 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
- 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, Franceschetti-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
- 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)
- Boomerang Dysplasia
- Short Rib–Polydactyly Syndromes
- 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-Hair Hypoplasia 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 Cephalopolysyndactyly 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-Polydactyly 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-63 Related Ectodermal Dysplasia
- 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
- Suggested Readings
- Chapter 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes
- References
- Chapter 4. Normal Standards
- Reference
- Appendix. Pattern of Malformation Differential Diagnosis by Anomalies
- Index
- No. of pages: 1088
- Language: English
- Edition: 8
- Published: March 2, 2021
- Imprint: Elsevier
- Hardback ISBN: 9780323638821
- eBook ISBN: 9780323638838
KJ
Kenneth Lyons Jones
Affiliations and expertise
Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, CaliforniaMJ
Marilyn Crandall Jones
Affiliations and expertise
Professor of Clinical Pediatrics, Department of Pediatrics, University of California, San Diego School of Medicine La Jolla, California; Clinical Service Chief, Division of Genetics, Rady Children’s Hospital, San Diego, CaliforniaMd
Miguel del Campo
Affiliations and expertise
Assistant Professor, Ciències Experimentals i de la Salut, Universitat Pompeu Fabra; Consultant in Clinical Genetics, Programa de Medicina Molecular I Genètica, Hospital Vall d´Hebron, Barcelona, Spain