The morphological developmental toxicity endpoints were the following: cleft lip and/or cleft palate; variations or abnormalities of the limb, including scapula, clavical and pelvis; variations or abnormalities of the vertebral column, ribs or sternum; variations or abnormalities of the cranium; abnormalities of the metanephric kidney; and abnormalities of the ureter.
The most frequent manifestations, which are virtually always present, include mental retardation, morphological abnormalities of the head and limbs, short stature, hypotonia and hyperlaxity of ligaments.
In humans, PRKDC mutations can cause severe combined immunodeficiency due to defective V(D J recombination, and severe cases can also have abnormalities of the brain, face, limbs and anogenital organs (26).
It has proven useful because there is a relationship between the MU architecture and the signals recorded from the MU; this allows the assessment of the type of structural alterations of MUs in individual muscles and the distribution of abnormalities in the limb muscles.
Research among 2500 exposed women and controls showed no difference with respect to the occurrence of abnormalities of the central nerve system, limbs and joints, urogenital tract and circulatory tract between treated and untreated pregnancies, even when 17OHPC was administered in early pregnancy [ 11- 13].
There were no abnormalities of upper limbs or spine.
Stunted growth of the limbs and abnormalities in the craniofacial skeleton of newborn PTHrP-gene null mice served as the first evidence that PTHrP was necessary for normal skeletal development and growth.
Syndromic craniosynostosis occurs as a result of simple genetic mutations and is accompanied by additional developmental abnormalities particularly involving the limbs [ 6].
In humans, TBX3 mutations cause ulnar-mammary syndrome (UMS) which is characterized by mammary gland hypoplasia, abnormal limb development and various abnormalities of the heart and genitalia [ 8].
Skeletal x-rays of the newborn infant reveal characteristic abnormalities that include shortening of the long bones of the limbs, particularly the proximal bones, with metaphyseal irregularities.
