Her skeletal deformities were described as distal arthrogryposis of all limbs, talipes equinovalgus, and rhizomelic
upper limbs, which were confirmed on plain X-rays.
The patients may present with disproportionate short stature, macrocephaly, lumbar lordosis, rhizomelic
and mesomelic shortness and brachydactyly (1,2).
At age 2 months, the boy had flat facial profile, hypotonia, ichthyosis, cataracts, asymmetric rhizomelic
shortening, aortic coarctation, marked generalized stippled calcifications, vertebral segmentation defects, developmental delay and moderate hydrocephaly requiring shunt.
(4) Weissenbacher-Zweymuller syndrome: congenital neonatal rhizomelic
dwarfism, metaphyseal widening of the long bones, vertebral coronal clefts, micrognathia, cleft palate, depressed nasal root, hypertelorism, protruding eyes, occasional sensorineural deafness, and spina bifida.
It deserves a note that among those who did not show postnatal catch-up growth, the only IUGR infant born at term (A10, Table 1) was discovered to be affected by the rare Pallister-Killian syndrome, caused by tetrasomy of chromosome 12p which is characterized by facial dysmorphism, rhizomelic
limb shortness, and small hands and feet, along with corpus callosum hypoplasia.
The PBDs include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), which are called Zellweger syndrome spectrum, and rhizomelic
chondrodysplasia punctata (RCDP) (23),(24) (Table 2).
As the growth rate slows, the trunk appears long with lumbar lordosis and rhizomelic
shortening of the limbs.
Jude Peters is an adorable one-year-old boy living with a disease called rhizomelic
chondrodysplasia punctata (RCDP), a rare and fatal form of dwarfism.
chondrodysplasia punctata (RCDP) is a rare disorder of peroxisomal metabolism, with an estimated incidence 1: 100.000.
Affected individuals exhibit short stature caused by rhizomelic
shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand.
Clinical and radiographic features of achondroplasia Clinical features Radiographic features Disproportionate short stature Long bones: Short, robust tubular bones; generalised metaphyseal Large head with frontal bossing changes (may be mild) Mid-face hypoplasia with depressed Spine: narrowing of the nasal bridge interpedicular distance in lumbar spine Rhizomelic
shortening of the arms and legs Pelvis: rounded ilia and horizontal acetabulae; narrow Brachydactyly, often with trident sacrosciatic notches configuration of the hands Femurs: proximal radiolucency of Bowed legs femoral heads Thoraco-lumbar kyphosis in infancy Exaggerated lumbar lordosis when ambulatory Normal/average intelligence
Also noted was a rhizomelic
and mesomelic shortening of all extremities with palpable osseous deformities secondary to enchondromas, especially of the shoulders, hands, and lower extremities.