Hemiatrophy.

G D Finch; C J Dawe

PubMed · 12499953

Hemiatrophy.

Abstract

The authors present a series of seven patients who have a diagnosis fitting that of combined ipsilateral facial and somatic hemiatrophy. Diagnostic features include facial, tongue, and ear asymmetry and associated decreases in length and size of the ipsilateral limbs. The symptomatic problems related to leg length discrepancy can be addressed in the usual fashion, and this condition does not appear to progress to large leg length discrepancies. The cosmetic side of this disorder is often concerning: it is the most reliable identification of the existence of this condition and is present from birth. Facial hemiatrophy is mild and does not appear to be progressive. The hemiatrophies probably have a multifactorial pathogenesis that most likely has at its basis a genetic cause.

Keep this discovery

Explore connections, maps & timelines

BibTeX RIS

G D Finch, C J Dawe. Hemiatrophy.. https://pubmed.ncbi.nlm.nih.gov/12499953/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2003

Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation?

A case with pulmonary atresia/ventricular septal defect associated with port-wine stain and retinal vascular abnormality is reported. Clinical findings were similar to both PHACE syndrome and Sturge-Weber syndrome (SWS). But, the most frequent and well-known features of both syndromes were absent. So, it could not be concluded whether this is a new constellation or an incomplete form of one of the two syndromes. In both situations, presence of a complex congenital heart disease that has not been reported previously makes this case original.

Abnormalities, Multiple↗

PubMed2003

Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.

A 6-year-old boy with congenital hip dislocation, developmental delay, short stature, macrocephaly, low set ears, short neck, and hyperlaxity of the wrists and fingers is described. Radiographs disclosed mainly the presence of thoracic scoliosis, narrow interpedicular distances, metaphyseal vertical striations, very small irregular epiphyses, right hip dislocation, luxation of both elbows, and severe delay of ossification of the epiphyses and the carpal bones. These features are very close to the newly described entity: spondyloepimetaphyseal dysplasia and multiple dislocations. This patient brings to light the differential diagnosis and confirms the specificity of the radiological findings of this new entity.

Abnormalities, Multiple↗

PubMed2003

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?

We report on two sibs (of 4) with a syndrome of minor facial anomalies, proportionate IUGR, neonatal non-autoimmune diabetes mellitus (NDM), severe congenital hypothyroidism (CH), cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by large kidneys and multiple small cysts with deficient corticomedullary junction differentiation and normal kidney function. The phenotype observed in the two sibs was identical. Although a combination of liver, kidney, and pancreatic involvement has been described in Ivemark syndrome (hepato-renal-pancreatic syndrome), the coexistence of NDM, CH, and glaucoma in both sibs suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. Mutation analysis for several candidate genes is warranted.

Abnormalities, Multiple↗

Abstract

Explore related subjects

Keep this discovery

Related citations

Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation?

Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?