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Short Rib-Polydactyly Syndrome, Type II
Short Rib-Polydactyly
Syndrome, Type II
SRP syndrome 2, Majewski type
Lethal dwarfism, markedly short limbs, narrow constricted thorax, polysyndactyly, median cleft lip/
palate, sexual and visceral anomalies
Frequency: Rare (fewer than 100 published cases).
Genetics
Autosomal recessive (OMIM 263520); pericentric inversion of chromosome 4 reported.
Clinical Features
• Hydrops fetalis
• Constricted thorax, pulmonary hypoplasia, respiratory distress
• Protruding abdomen
• Micromelia, pre- and postaxial polydactyly, hallucal and postaxial polysyndactyly of feet, nail dysplasia
• Large head, flat nasal bridge
• Median cleft lip/palate
• Low-set, malformed ears
• Hypoplastic epiglottis, malformed larynx
• Micrognathia
• Cardiovascular defects, gastrointestinal and genitourinary anomalies, polycystic kidneys, ambiguous genitalia
• Central nervous system malformations
Differential Diagnosis
• Short rib-polydactyly syndrome types I and III
(Saldino-Noonan and Verma-Naumoff): abnormal pelvis, metaphyseal irregularities of tubular
bones
• Short rib-polydactyly syndrome type IV (BeemerLanger): 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; TsaiHuang 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 metaphyses (in contrast to the pointed or ragged ends of
Saldino-Noonan syndrome)
• Ovoid tibias, disproportionately shortened compared with fibulas
• Mesomelic limb shortening
• Premature ossification of proximal humeral and
femoral epiphyses
Spine
• Defective vertebral ossification
Skull
• Underdeveloped mandible
• Irregular teeth
Fig. 94.1. Patient 1, newborn. Large head, flat nasal bridge, hypertelorism, epicanthal folds, depressed nose, median cleft lip
and palate, severe micrognathia, low-set dysmorphic ears, bifid
thumb, and postaxial polydactyly. (Reprinted, with permission, from Mastroiacovo et al. 1990)
Short Rib-Polydactyly Syndrome, Type II
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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 regular (in contrast to Saldino-Noonan), rounded metaphyses.
Scapulae are very small. Vertebral platyspondyly. Note premature 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)
Bibliography
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