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A. Castriota-Scanderbeg, B. Dallapiccola Abnormal Skeletal Phenotypes From Simple Signs to Complex Diagnoses Alessandro Castriota-Scanderbeg Bruno Dallapiccola

Abnormal Skeletal Phenotypes From Simple Signs to Complex Diagnoses

With 835 Figures in 1415 Parts

123 Alessandro Castriota-Scanderbeg,MD Pediatrician and Radiologist Director of the CT and MRI Unit Department of Foundation Hospital “Cardinale G. Panico” Tricase, Lecce, Italy

Bruno Dallapiccola,MD Professor of Human Genetics Department of Experimental and University “La Sapienza”, Rome, Italy Scientific Director Hospital IRCCS “Casa Sollievo della Sofferenza” San Giovanni Rotondo, Foggia and Institute “CSS-Mendel”, Rome, Italy

ISBN-10 3-540-67997-9 Springer Berlin Heidelberg New York ISBN-13 978-3-540-67997-4 Springer Berlin Heidelberg New York

Library of Congress Control Number: 2005929949

This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provision of the German Copyright Law of September 9, 1965, in its current version,and permission for use must always be obtained from Springer-Verlag.Violations are liable to prosecution under the German Copyright Law. Springer is a part of Springer Science+Business Media springeronline.com © Springer-Verlag Berlin Heidelberg, 2005 Printed in Germany The use of designations, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publisher cannot guarantee the accuracy of any information about dosage and application contained in this book.In every individual case the user must check such information by con- sulting the relevant literature. Editor: Dr. Ute Heilmann, Heidelberg, Germany Desk editor: Dörthe Mennecke-Bühler, Heidelberg, Germany Production: PRO EDIT GmbH, Heidelberg, Germany Cover-Design: Frido Steinen-Broo,Viladasens, Spain Typesetting and Reproduction: AM-productions GmbH, Wiesloch, Germany Printing and Binding: Stürtz GmbH, Würzburg, Germany Printed on acid-free paper 21/3151bg - 5 4 3 2 1 0 To the memory of my father, Giorgio, and to my mother, Maria Teresa, who illuminated my life with their example. To my uncle Giulio, a second father to me and best friend. To my wife, Caroline, a wellspring of love and unconditional support.

A.C.S.

To my past, present and future pupils, and to all those whose devotion and love have contributed in such a way that this book has reached the light of day.

B.D. VII

Foreword

When one is asked to review a manuscript in order of the different parts of the skeleton and comprises to write a foreword, one always asks oneself,“Is there about 600 pages. anything special about this book?” “Does it supply The reader will find something about the inci- us with unique information?” I hesitate to think how dence, anatomic location, pathogenesis, differential many years ago it was when I first discussed with diagnosis, diagnostic relevance, and, if known, Dr. Alessandro Castriota-Scanderbeg the possible the pattern of inheritance. This approach to the sub- publication of this book. It may well have been a ject, which is essentially symptom-based, contrasts decade ago. I seem to remember that I encouraged markedly with the conventional texts that either sys- him to write a text that was truly different from the tematically report a given disorder or list the features classic ones. that form a gamut. That this most remarkable first edition is unique is In addition, the authors provide a second part of easily illustrated. I have personally picked an area I 300 pages in which they cover approximately 100 am less familiar with. In Chap. 2, “The ,” the syndromes, congenital anomaly syndromes, skeletal following sections are covered: embryology of the dysplasias, and chromosomal disorders to aid in thorax, abnormal shape and size of the chest, small major differential diagnosis. Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. Each radiographic sign has a synopsis and the vari- I am delighted with the efforts of Dr. Castriota- ous conditions that are associated are listed. The bib- Scanderbeg and Dr. Dallapiccola and I am sure that liographies are very current and more than adequate. the readers will share my enthusiasm for this most This is followed by a discussion of unusual and needed text in the field of dys- and .Various associations with pec- plasias. tus excavatum and pectus carinatum both as isolated entities and in syndromal association are cited. A considerable amount of space is allocated to ab- Summer 2005 Robert J. Gorlin, DDS, MS, DSc normalities, which have been grouped into condi- Regents’ Professor Emeritus tions involving short , 11 pairs of ribs, super- Department of Oral Pathology numerary ribs, slender, thin or twisted ribs, wide or and Genetics thickened ribs, rib notching, fused or bifurcated ribs, School of flared or cupped ribs, rib gaps, and clavicular abnor- Professor Emeritus malities such as aplasia/hypoplasia, slender, wide of Pathology, , or thickened , clavicles with lateral hooks, and Gynecology, scapular abnormalities, and sternal abnormalities. Otolaryngology, From this brief description of only one chapter, I and School believe the reader will be able to appreciate the im- of Medicine mense amount of work undertaken to write such an University of Minnesota encyclopedic text. This approach is taken with each Minneapolis, Minnesota IX

Preface

This book was conceived in 1993, when one of us tic relevance, differential diagnosis, pathogenesis, (A.C.S.) was appointed assistant of pediatric radio- and pattern of inheritance, when applicable. The logy at the hospital “Casa Sollievo della Sofferenza” second part of the book describes systematically 111 in San Giovanni Rotondo,Italy,a research institute on syndromes and skeletal dysplasias, providing analyt- genetic disorders, where the other one of us (B.D.) ical information on clinical characteristics, genetics, was the scientific director. The sizable archive of un- radiographic appearance, and major differential usual cases assembled in that Hospital and in other diagnoses. Extensive references are included at the Institutions where we worked or consulted has creat- end of each subsection for more in-depth study of ed over the years an unparalleled resource, which specific topics. As a general resource, we have used prompted our decision to make the material available and referred extensively to some excellent genetics for a larger audience of specialists involved in the and radiology textbooks; these are listed separately management of patients with a constitutional bone at the end of this preface. disorder. Many cases in this book are published due to the Imaging diagnosis of the constitutional disorders courtesy of colleagues, whose contribution is ac- of bone is a subject faced by many but loved by few knowledged in the figure legends. Among these per- radiologists, mainly because each one of these disor- sons, we are deeply indebted to G. Canepa, MD, ders is individually rare. An additional reason is the Hospital of Merate; G. Beluffi, MD, University of unusual and often confusing terminology used to Pavia; and S. Fasanelli, MD, Bambino Gesù Hospital, describe simple bone defects as well as complex Rome, each of whom contributed numerous su- syndromes, which acts as a barrier against the need perb case studies. A special note of thanks goes to to share proper information among colleagues of S. Bernasconi, MD, and R. Virdis, MD, both from the different specialties, including general radiologists, Department of Pediatrics at the University of Parma, dysmorphologists, geneticists, pediatricians, and for having made available to us the archive of orthopedic surgeons. P. Balestrazzi, MD, a distinguished clinical geneticist Identification of a given “pattern” of malforma- and good friend of ours, who died prematurely while tions requires, of course, the recognition of the indi- this book was in progress. R. Mingarelli, MD, from vidual components of the pattern. Hence our idea to the CCS-Mendel Institute of Rome, has been the gen- write a reasonably comprehensive textbook that erous friend and precious colleague who provided would offer an essential, practical guideline to the continuing, enthusiastic support to the project dur- recognition of the key radiographic signs supporting ing the whole period of book preparation. We wish the diagnosis of syndromes and skeletal dysplasias. to express our profound indebtedness to her. Mr. Twelve years have now elapsed since the book’s G. Bonelli is the dedicated photographer who has inception, an interval that is remarkably long in the transformed countless, often poor-quality X-ray field of modern genetics, a specialty marked by the images into the outstanding black-and-white illus- almost daily discoveries related to the biological trations that appear in the book. Without his help, mechanisms underlying genetic disorders. The as- this book would not have been the same. tounding progress of this discipline in the past few A.C.S. is also grateful to Dr. L. Amadio, general years led us to rethink part I of the book from what director at the research institute “St. Lucia Founda- originally would have been a simple, concise list of tion”, Rome, and to Dr. Suor M. Bramato, general single radiological signs to a detailed discussion of director at the Foundation Hospital “Cardinale G. some 150 radiographic signs, with information con- Panico”, Tricase, for their support during the periods cerning their incidence, anatomic location, diagnos- of heavy writing. X Preface

Finally,thanks are extended to the staff at Springer, It is our sincere hope that the reader will find this and especially to Dr. Ute Heilmann, executive editor, textbook both enjoyable and educational. and Dörthe Mennecke-Bühler, desk editor, for their patience, understanding, and unfailing expertise. Janet Dodsworth, Judith Diemer, and Martha Berg Summer 2005 A. Castriota-Scanderbeg agonized for so long over copyediting, proofreading B. Dallapiccola and page make-up. They all drove us smoothly through to the end of this laborious task.

Selected Reading

Canepa G, Maroteaux P, Pietrogrande V. Dysmorphic syn- Poznanski AK. The hand in radiologic diagnosis, WB Saun- dromes and constitutional diseases of the skeleton, Piccin ders, 2nd edn., 1984. Nuova Libraria, 2001. Reeder MM. Reeder and Felson’s gamut in radiology. Compre- Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the hensive lists of roentgen differential diagnosis, Springer, head and neck, Oxford University Press, 4th edn., 2001. 3rd edn., 1993. Hall C, Washbrook J. Radiological electronic atlas of skeletal Resnick D. Diagnosis of bone and joint disorders, WB Saun- malformation syndromes and dysplasias, Oxford Universi- ders, 3rd edn., 1995. ty Press, 2000. Spranger JW, Brill PW, Poznanski A. Bone dysplasias. An atlas Jones KL. Smith’s recognizable patterns of human malforma- of genetic disorders of skeletal development, Oxford Uni- tion, WB Saunders, 4th edn., 1988. versity Press, 2nd edn., 2002. Kozlowski K, Beighton P.Gamut index of skeletal dysplasia.An Taybi H, Lachman R. Radiology of syndromes, metabolic dis- aid to radiodiagnosis, Springer, 2nd edn., 1995. orders, and skeletal dysplasias, Mosby, 4th edn., 1996. Maroteaux P. Les maladies osseuses de l’enfant, Flammarion médecine-sciences, 1982. McKusick V.Online mendelian inheritance in man. www.ncbi.nlm.nih.gov. Content

Chapter 2 Part I Thorax ...... 111 A. Castriota-Scanderbeg Chapter 1 Abnormal Shape or Size of the Chest ...... 112 Skull ...... 3 Small Thorax ...... 112 A. Castriota-Scanderbeg Pectus Excavatum ...... 118 Pectus Carinatum ...... 121 Abnormalities of the Shape and/or Size Rib Abnormalities ...... 124 of the Skull ...... 5 Short Ribs ...... 124 ...... 5 Eleven Pairs of Ribs ...... 125 ...... 11 Supernumerary Ribs ...... 127 ...... 19 Slender, Thin, or Twisted Ribs ...... 129 Abnormalities of Cranial Development Wide or Thickened Ribs ...... 132 and Ossification ...... 32 Rib Notching ...... 136 Calvarial Ossification Defects ...... 32 Defects in Segmentation ...... 137 Delayed Closure and/or Incomplete Flared or Cupped Ribs ...... 140 Ossification of Sutures and Fontanels . . . . 41 Rib Gap ...... 143 Wormian ...... 46 Clavicular Abnormalities ...... 144 Skull Thickening ...... 53 Aplasia and Hypoplasia ...... 144 Abnormalities of the Skull Base ...... 64 Slender Clavicles ...... 148 Abnormalities of the Sella Turcica ...... 65 Wide or Thickened Clavicles ...... 150 Abnormalities of the Foramen Magnum . . . 69 Clavicles with Lateral Hooks ...... 154 Basilar Impression ...... 72 Scapular Abnormalities ...... 156 Abnormalities of the Facial Bones Sternal Abnormalities ...... 162 and Sinonasal Cavities ...... 75 Abnormalities of Orbital Size ...... 75 Orbital Hypotelorism ...... 78 Chapter 3 Orbital ...... 80 Choanal Atresia ...... 83 Spine ...... 167 Facial Clefts ...... 85 A. Castriota-Scanderbeg Small Sinuses ...... 89 Abnormalities of the Mandible ...... 91 Abnormal Shape or Size of Vertebrae ...... 167 Micrognathia ...... 91 Tall Vertebrae ...... 168 Prognathism ...... 98 Beaked Vertebrae ...... 170 Intracranial Calcification ...... 100 Scalloping of the Vertebral Body ...... 172 Platyspondyly ...... 174 Hemivertebrae ...... 184 Block Vertebrae ...... 190 Coronal Cleft Vertebrae ...... 195 Absent or Minimal Vertebral Ossification . . 199 Odontoid Hypoplasia/Aplasia ...... 202 Sacral Agenesis ...... 207 XII Content

Defects of Spinal Alignment ...... 210 Abnormalities of the Long Bones and ...... 210 in the Lower Extremities ...... 314 Abnormalities of the Spinal Canal ...... 218 ...... 314 Narrow Spinal Canal ...... 218 ...... 316 Wide Spinal Canal ...... 223 Proximal Femoral Focal Dysplasia ...... 318 Atlanto-axial Instability ...... 226 Tibial Bowing ...... 320 Disc Calcification ...... 230 Tibial ...... 323 ...... 324 Chapter 4 Patellar Hypoplasia, Aplasia, Dysplasia, and Dislocation ...... 326 Pelvis ...... 233 Epiphyseal Abnormalities ...... 330 A. Castriota-Scanderbeg Stippled Epiphyses ...... 330 Hypoplastic, Dysplastic, Abnormal Shape or Size of Ilia, Ischia, Dysgenetic Epiphyses ...... 333 and Pubic Bones ...... 233 Large Epiphyses ...... 337 Small, Hypoplastic Pelvis ...... 234 Aseptic Necrosis ...... 339 Flared Iliac Wings ...... 240 Metaphyseal Abnormalities ...... 343 Small Sciatic Notches ...... 243 Broad Metaphyses ...... 343 Iliac Crest Serration ...... 244 Metaphyseal Cupping ...... 346 Wide Interpubic Distance ...... 246 Metaphyseal Spurs ...... 350 Acetabular Abnormalities ...... 248 Metaphyseal Bands ...... 352 Small Acetabular Angle ...... 249 Irregular Metaphyses ...... 356 ...... 250 Abnormalities of the Femoral Head and Neck ...... 253 Chapter 6 Slipped Capital Femoral Epiphysis ...... 254 ...... 257 Hands ...... 361 ...... 260 A. Castriota-Scanderbeg, Early Ossification of the Femoral Head . . . . 263 B. Dallapiccola Hypoplasia/Aplasia, Irregularities, Fragmentation Shortening or Absence of Components of the Femoral Head ...... 263 of the Hands ...... 364 Subluxation and Dislocation ...... 268 Brachytelephalangy ...... 365 Brachymesophalangy ...... 368 Brachyproxiphalangy ...... 372 Chapter 5 Brachymetacarpalia ...... 373 Radial Ray Deficiency ...... 379 Long Bones ...... 273 A. Castriota-Scanderbeg Ulnar-Ray Deficiency ...... 383 Central Ray Deficiency ...... 386 Abnormalities of the Shape Terminal Transverse Defect ...... 390 and Contour of the Long Bones ...... 274 Other Anomalies of the Hand ...... 394 Broad Tubular Bones ...... 274 Preaxial ...... 394 Slender Tubular Bones ...... 277 Postaxial Polydactyly ...... 396 Bowed Tubular Bones ...... 280 ...... 399 Cortical Thickening ...... 291 Symphalangism ...... 404 Cortical Thinning ...... 299 ...... 407 Limb Shortening ...... 302 Camptodactyly ...... 410 Rhizomelic Limb Shortening ...... 302 Angel-shaped Phalanges ...... 414 Mesomelic Limb Shortening ...... 305 Macrodactyly ...... 416 Abnormalities of the Long Bones ...... 419 in the Upper Extremities ...... 307 Epiphyseal Abnormalities ...... 422 Radioulnar ...... 308 Cone-shaped Epiphyses ...... 422 Humeroradial and Humeroulnar Synostosis 311 Pseudoepiphyses ...... 426 Madelung Deformity ...... 313 Ivory Epiphyses ...... 428 Content XIII

Carpal Abnormalities ...... 429 Carpal Angle Abnormalities ...... 430 Part II Supernumerary Carpal Bones ...... 432 Carpal Synostosis ...... 434 A. Castriota-Scanderbeg, B. Dallapiccola Thumb Abnormalities ...... 437 Thumb Hypoplasia/Aplasia ...... 437 Triphalangeal Thumb ...... 441 1 Aarskog Syndrome ...... 576 Thumb Polydactyly ...... 445 2 , Type IB...... 579 Acro-osteolyses ...... 446 3 Achondrogenesis, Type II ...... 581 Acro-osteolysis, Phalangeal Type ...... 447 4 ...... 582 Acro-osteolysis, Carpotarsal Type ...... 451 5 Acrofacial , Nager Type ...... 588 6 Angelman Syndrome ...... 591 7 ...... 593 Chapter 7 8 Asphyxiating Thoracic Dysplasia ...... 597 9 Atelosteogenesis ...... 599 Feet ...... 455 10 Bardet-Biedl Syndrome ...... 605 A. Castriota-Scanderbeg 11 Beckwith-Wiedemann Syndrome ...... 607 and Other Foot Deformities ...... 456 12 C Syndrome ...... 609 Clubfoot/Metatarsus Adductus ...... 459 13 Campomelic Dysplasia ...... 611 Vertical Talus ...... 463 14 ...... 614 Tarsal Abnormalities ...... 466 15 Cerebro-costo-mandibular Syndrome . . . . 616 Tarsal Synostosis ...... 466 16 CHARGE Association ...... 618 Multiple Calcaneal Ossification Centers . . . 470 17 Chondrodysplasia Punctata, Conradi-Hünermann Type ...... 619 18 Chondrodysplasia Punctata, Chapter 8 Rhizomelic Form ...... 621 19 Chondrodysplasia Punctata, Joints ...... 473 Brachytelephalangic Type ...... 625 A. Castriota-Scanderbeg 20 Chondroectodermal Dysplasia ...... 627 Abnormalities of Joint Motion ...... 473 21 Chromosome 4p– Syndrome ...... 630 Joint , ...... 473 22 Chromosome Trisomy 13 Syndrome . . . . . 632 ...... 481 23 Chromosome Trisomy 18 Syndrome . . . . . 638 Joint Laxity, Joint Hypermobility ...... 485 24 Chromosome Trisomy 21 Syndrome . . . . . 642 Abnormalities of Joint Position ...... 489 25 Cleidocranial Dysplasia ...... 648 Joint Subluxation and Dislocation ...... 490 26 ...... 654 Premature Degenerative Joint Disease . . . . . 496 27 Coffin-Lowry Syndrome ...... 657 28 Coffin-Siris Syndrome ...... 659 29 Cohen Syndrome ...... 662 Chapter 9 30 Craniometaphyseal Dysplasia, Dominant Type ...... 664 Generalized Skeletal Abnormalities . . . . . 501 A. Castriota-Scanderbeg 31 Cri-du-chat Syndrome ...... 667 32 ...... 672 Osteoporosis ...... 501 33 De Lange Syndrome ...... 674 , Hyperostosis ...... 510 34 Diaphyseal Dysplasia ...... 676 Multiple Fractures, Bone Fragility ...... 516 35 ...... 679 Exostoses, Spurs, Horns ...... 521 36 ...... 685 Multiple Radiolucent Defects, Lytic Lesions . . 527 37 Dyschondrosteosis ...... 688 Osteolyses ...... 538 38 Dysosteosclerosis ...... 690 Advanced Bone Age ...... 542 39 Ectodermal Dysplasias ...... 692 Delayed Bone Age ...... 548 40 Ehlers-Danlos Syndromes ...... 694 Soft Tissue Calcification and Ossification . . . . 552 41 ...... 696 Asymmetry (Hemihypertrophy, Hemiatrophy) 562 42 Exostoses, Multiple ...... 699 Dwarfism with Neonatal Death ...... 567 43 Fanconi Anemia ...... 705 XIV Content

44 Syndrome . . . . . 708 83 Prader-Willi Syndrome ...... 832 45 Freeman-Sheldon Syndrome ...... 712 84 Progeria ...... 835 46 Frontometaphyseal Dysplasia ...... 716 85 Pseudoachondroplasia ...... 838 47 ...... 719 86 Pyknodysostosis ...... 845 48 Hallermann-Streiff Syndrome ...... 722 87 Roberts Syndrome ...... 849 49 Holt-Oram Syndrome ...... 724 88 Robin Sequence ...... 851 50 Kenny-Caffey Syndrome ...... 727 89 ...... 853 51 Klippel-Feil Anomaly ...... 729 90 Rubinstein-Taybi Syndrome ...... 856 52 Klippel-Trenaunay-Weber Syndrome . . . . 732 91 Saethre-Chotzen Syndrome ...... 859 53 Kniest Dysplasia ...... 735 92 ...... 863 54 ...... 738 93 Short Rib-Polydactyly Syndrome, 55 ...... 741 Type I ...... 866 56 McCune-Albright Syndrome ...... 744 94 Short Rib-Polydactyly Syndrome, 57 Meckel Syndrome ...... 748 Type II ...... 868 58 Melnick-Needles Syndrome ...... 750 95 Silver-Russell Syndrome ...... 870 59 ...... 755 96 Smith-Lemli-Opitz Syndrome ...... 873 60 Mental Retardation, X-Linked, 97 ...... 878 Associated with FRA Xq27.3 ...... 757 98 Spondyloepimetaphyseal Dysplasia, 61 Mesomelic Dwarfism, Langer Type ...... 759 Irapa Type ...... 881 62 Mesomelic Dwarfism, Nievergelt Type . . . . 762 99 Spondyloepimetaphyseal Dysplasia, 63 Metatropic Dysplasia ...... 764 Strudwick Type ...... 884 64 Multiple Epiphyseal Dysplasia ...... 767 100 Spondyloepiphyseal Dysplasia Congenita . 887 65 Nail–Patella Syndrome ...... 772 101 Spondyloepiphyseal Dysplasia Tarda . . . . 893 66 Nevoid Basal Cell Carcinoma Syndrome . . . 776 102 Spondylometaphyseal Dysplasia, 67 ...... 780 Kozlowski Type ...... 897 68 Opitz Syndrome ...... 783 103 Stickler Syndrome ...... 902 69 Oro-facio-digital Syndrome, Type I...... 785 104 ...... 907 70 Oro-facio-digital Syndrome, Type II . . . . . 787 105 Thrombocytopenia-Absent 71 , Type I ...... 791 Syndrome ...... 910 72 Osteogenesis Imperfecta, Type IIA ...... 794 106 Treacher-Collins Syndrome ...... 912 73 Osteogenesis Imperfecta, Type IIB/III . . . . 796 107 Tricho-rhino-phalangeal Syndrome, 74 Osteopathia Striata with Cranial Sclerosis . . 801 Type I ...... 915 75 , Infantile Type ...... 804 108 Tricho-rhino-phalangeal Syndrome, 76 Osteopetrosis, Adult Type ...... 807 Type II ...... 919 77 ...... 811 109 ...... 922 78 Oto-palato-digital Syndrome, Type I. . . . . 814 110 VATER Association ...... 929 79 Oto-palato-digital Syndrome, Type II . . . . 819 111 Williams Syndrome ...... 931 80 Pena-Shokeir Syndrome ...... 823 81 ...... 827 82 ...... 830 Subject Index ...... 935 Part I