Congenital malformations - Edocr

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Chondrodysplasia X-linked Short stature Contractures Variable 25–50% Epiphyseal stippling
punctata recessive and proximal of joints depending present in fetus
X-linked shortening of Depressed nasal on type of and infancy
dominant limbs bridge (saddle dysplasia but no longer
Autosomal Punctate nose) present after
dominant calcifications Cataracts 2 yrs of age
or epiphyseal Seizures and Same clinical picture
stippling developmental due to maternal
delay
use of warfarin,
Hypoplasia of
phenytoin, maternal
distal
malabsorption of
phalanges
vitamin K, or
Dermopathy
maternal SLE
Heart defects
Spondyloepiphyseal Autosomal Short stature Cleft palate Usually not 50% Severe myopia
dysplasia dominant and limbs Platyspondyly lethal puts survivors
congenita Mutation in Kyphosis/scoliosis at risk of retinal
COL2A1 IUGR detachment
gene Talipes Spondyloepiphyseal
equinovarus,
dysplasia tarda
Dislocation of
presents later
hips
in life
Chondroectodermal Autosomal Acromesomelia Postaxial Variable 25% Much higher incidence
dysplasia recessive polydactyly in in Amish and
(Ellis-van Creveld Gene on all cases Australian
syndrome) chromosome 4 Cardiac defects aborigines
in 50% (ASD,
single atrium)
Ectodermal
defects
Dysplastic nails
Multiple gingival
frenulae
(Continued)