Congenital malformations - Edocr
Congenital malformations - Edocr
Congenital malformations - Edocr
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CHAPTER 46 SKELETAL DYSPLASIAS 315<br />
length of the parts of the limb should be<br />
measured in infants with short-limbed short<br />
stature skeletal dysplasias. If the humerus<br />
or femur is relatively shorter, the proximal<br />
shortening is called rhizomelia; disproportionate<br />
shortening of middle bones (radius,<br />
ulna, tibia, and fibula) is called mesomelia;<br />
and disproportionate shortening of distal extremities<br />
is called acromelia. The normal<br />
radius-humerus ratio is 75% and the normal<br />
tibia-femur ratio is 82%; and these ratios remain<br />
constant in normal children regardless<br />
of age or sex. 13 Severe micromelia refers to<br />
long bones that are four or more standard<br />
deviations below the mean for gestational<br />
age and is characteristic of thanatophoric<br />
dysplasia, achondrogenesis, and osteogenesis<br />
imperfecta type II.<br />
In addition, a complete physical examination<br />
should be done to identify dysmorphic<br />
features and other congenital anomalies<br />
which can provide important clues to<br />
the underlying diagnosis (Table 46-2). The<br />
presence of severe pulmonary insufficiency<br />
is suggestive of pulmonary hypoplasia seen<br />
in many lethal forms of skeletal dysplasias<br />
and may help in narrowing down the list of<br />
differential diagnosis.<br />
TABLE 46-2 Clinical Clues to the Underlying Diagnoses in an Infant with Skeletal Dysplasia<br />
• No malformation of other organs<br />
except bones<br />
Associated <strong>malformations</strong> of other<br />
organs usually present<br />
• Short limb—normal trunk<br />
Short trunk and short limbs<br />
• Craniofacial signs<br />
Cloverleaf skull<br />
Natal teeth, multiple frenulae<br />
Cleft palate<br />
Cataracts<br />
Cystic ears<br />
Blue sclerae<br />
• Limbs<br />
Hypoplastic/dysplastic nails<br />
Joint contractures<br />
Short abducted thumbs<br />
(Hitchhiker’s thumbs)<br />
Polydactyly<br />
Club feet<br />
• <strong>Congenital</strong> heart defects<br />
• Renal anomalies<br />
Achondroplasia, achondrogenesis, spondyloepiphyseal<br />
dysplasia, thanatophoric dysplasia, osteogenesis<br />
imperfecta, hypophosphatasia<br />
Campomelic dysplasia, diastrophic dysplasia,<br />
chondro-ectodermal dysplasia, asphyxiating thoracic<br />
dystrophy, short rib polydactyly dysplasia,<br />
chondrodysplasia punctata<br />
Achondroplasia, thanatophoric dysplasia, osteogenesis<br />
imperfecta, chondrodysplasia punctata, campomelic<br />
dysplasia, diastrophic dyplasia, chondro-ectodermal<br />
dysplasia, asphyxiating thoracic dystrophy<br />
Hypophosphatasia, osteopetrosis, achondrogenesis,<br />
spondyloepiphyseal dysplasia, hypochondrogenesis<br />
Thanatophoric dysplasia<br />
Chondroectodermal dysplasia<br />
Campomelic dysplasia, diastrophic dysplasia<br />
Chondrodysplasia punctata<br />
Diastrophic dyplasia<br />
Osteogenesis imperfecta<br />
Chondro-ectodermal dysplasia, Chondrodysplasia punctata<br />
Diastrophic dysplasia, chondrodysplasia punctata<br />
Diastrophic dysplasia<br />
Chondro-ectodermal dysplasia, asphyxiating thoracic dystrophy,<br />
short rib polydactyly dysplasia<br />
Campomelic dysplasia, diastrophic dysplasia<br />
Chondro-ectodermal dysplasia, campomelic dysplasia,<br />
short rib polydactyly dysplasia<br />
Asphyxiating thoracic dystrophy, short rib polydactyly dysplasia
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