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.
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.
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.
Letter: Bacterial endocarditis revealed by rhizomelic
Failure of endochondral ossification of the skull base, vertebral bodies and long bones results in rhizomelic
limb shortening (short proximal segments), macrocephaly, frontal bossing and midface hypoplasia (5).
Charlotte had rhizomelic
chondrodysplasia punctata (RCP) - a rare condition that causes short limbs, bone abnormalities and restricted growth.
However, for Refsum disease, the total clinical picture is required because phytanic acid also accumulates in persons with Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic
chondrodysplasia punctata type 1 (26).
The heterozygous type is characterized by moderate rhizomelic
shortened limbs, lumbar lordosis, short hands and fingers and macrocephaly.