94 Short Rib-Polydactyly Syndrome, Type II
SRP syndrome 2, Majewski type
Lethal dwarfism, markedly short limbs, narrow con- stricted thorax, polysyndactyly, median cleft lip/
palate, sexual and visceral anomalies
Frequency: Rare (fewer than 100 published cases).
Genetics
Autosomal recessive (OMIM 263520); pericentric in- version of chromosome 4 reported.
Clinical Features
• Hydrops fetalis
• Constricted thorax, pulmonary hypoplasia, respi- ratory distress
• Protruding abdomen
• Micromelia, pre- and postaxial polydactyly, hallu- cal and postaxial polysyndactyly of feet, nail dys- plasia
• Large head, flat nasal bridge
• Median cleft lip/palate
• Low-set, malformed ears
• Hypoplastic epiglottis, malformed larynx
• Micrognathia
• Cardiovascular defects, gastrointestinal and geni- tourinary anomalies, polycystic kidneys, ambigu- ous genitalia
• Central nervous system malformations Differential Diagnosis
• Short rib-polydactyly syndrome types I and III (Saldino-Noonan and Verma-Naumoff): abnor- mal pelvis, metaphyseal irregularities of tubular bones
• Short rib-polydactyly syndrome type IV (Beemer- Langer): small ilia, relatively well-formed tibias, bowed tubular bones of the forearm
• Short rib-polydactyly, other forms (Hall-Piepkorn type; Le Marec type; Martinez-Frias type; Tsai- Huang type; Yang type)
• Orofaciodigital syndrome type IV (Mohr-Majewski)
• Asphyxiating thoracic dysplasia
• Chondroectodermal dysplasia
Radiographic Features Chest
• Narrow thorax, extremely short, horizontal ribs Hands and Feet
• Polydactyly (pre- and/or postaxial)
• Short and broad tubular bones of hands and feet Extremities
• Short tubular bones with round,smooth metaphy- ses (in contrast to the pointed or ragged ends of Saldino-Noonan syndrome)
• Ovoid tibias, disproportionately shortened com- pared with fibulas
• Mesomelic limb shortening
• Premature ossification of proximal humeral and femoral epiphyses
Spine
• Defective vertebral ossification Skull
• Underdeveloped mandible
• Irregular teeth
Short Rib-Polydactyly Syndrome, Type II 868
Fig. 94.1. Patient 1, newborn. Large head, flat nasal bridge, hy- pertelorism, epicanthal folds, depressed nose, median cleft lip and palate, severe micrognathia, low-set dysmorphic ears, bifid thumb, and postaxial polydactyly. (Reprinted, with permis- sion, from Mastroiacovo et al. 1990)
Bibliography
Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorfiche e malattie costituzionali dello scheletro. Piccin, Padova, 1996
Chen H, Yang SS, Gonzalez E, Fowler M, Al Saadi A. Short rib- polydactyly syndrome, Majewski type. Am J Med Genet 1980; 7: 215–22
Cooper CP, Hall CM. Lethal short rib-polydactyly syndrome of Majewski type: a report of three cases. Radiology 1982; 144:
513–7
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP. Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet 1995; 59: 359–64
Mastroiacovo P, Dallapiccola B,Andria G, Camera G, Lungarot- ti MS. Difetti congeniti e sindromi malformative. McGraw- Hill, Milan, 1990
Neri G, Gurrieri F, Genuardi M. Oral-facial-skeletal syndromes.
Am J Med Genet 1995; 59: 365–8
Sillence D, Kozlowski K, Bar-ziv J, Fuhrumann-Rieger A, Fuhrmann W, Pascu F. Perinatally lethal short rib-poly- dactyly syndromes. 1. Variability in known syndromes.
Pediatr Radiol 1987; 17: 474–80
Spranger JW, Grimm B, Weller M, Weissenbacher G, Herrmann J, Gilbert EF, Krepler R. Short rib-polydactyly (SRP) syn- dromes, types Majewski and Saldino-Noonan. Z Kinder- heilkd 1974; 116: 73–94
Walley VM, Coates CF, Gilbert JJ, Valentine GH, Davies EM.
Short rib-polydactyly syndrome, Majewski type. Am J Med Genet 1983; 14: 445–52
Short Rib-Polydactyly Syndrome, Type II 869
S
Fig. 94.2. Patient 2, stillborn. Thorax is narrow, with severely shortened, horizontally oriented ribs. Pelvis is normal, except for delayed pubic ossification. Tibias are severely short and are ovoid. Limb shortening, predominantly mesomelic, with regu- lar (in contrast to Saldino-Noonan), rounded metaphyses.
Scapulae are very small. Vertebral platyspondyly. Note prema- ture ossification of proximal humeral and femoral epiphyses.
(Reprinted, with permission, from Canepa et al. 1996)
Fig. 94.3. Patient 1, newborn. Note preaxial and postaxial toe polydactyly on both feet (8 toes on each foot; 6 metatarsals on right and 7 metatarsals on left foot). Note also ovoid tibias.
(Reprinted, with permission, from Mastroiacovo et al. 1990)
