Renal hypoplasia

Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)
23747353
 FEMALE Adult
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.
Chen CP, Ko TM, Chen YY, Su JW, Wang W.
Gene. 2013;527(1):384-8.
We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity.
20814946
 MIXED_SAMPLE Adult
Tissue-limited mosaicism for monosomy 13.
Golabi M, James AW, Good WV, Cotter PD.
Am J Med Genet A. 2010;152A(10):2634-9.
Findings include microcephaly, agenesis of the corpus callosum, bilateral posterior colobomas, cataract and optic nerve dysplasia, patent foramen ovale, renal hypoplasia, hypospadias and unilateral inguinal hernia, unilateral hypoplasia of the lower limb, sparse and patchy hair, subtle pigmentary mosaicism, and global developmental delay.
17033686
 MIXED_SAMPLE Adult
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martinez-Garay I, Tomas M, Oltra S, Ramser J, Molto MD, Prieto F, Meindl A, Kutsche K, Martinez F.
Eur J Hum Genet. 2007;15(1):29-34.
Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia.
15966060
 FEMALE Adult
Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
Beaujard MP, Jouannic JM, Bessieres B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoi MF.
Prenat Diagn. 2005;25(6):451-5.
An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, microcephaly, a cleft lip and renal hypoplasia.
11759873
 MALE Child
Aggressive periodontitis associated with Fanconi's anemia. A case report.
Nowzari H, Jorgensen MG, Ta TT, Contreras A, Slots J.
J Periodontol. 2001;72(11):1601-6.
Fanconi's anemia is an autosomal recessive disease associated with chromosomal breakage as well as pancytopenia, skin pigmentation, renal hypoplasia, cardiac defects, microcephaly, congenital malformations of the skeleton, hypogonadism, and increased risk of leukemia.
7246603
 FEMALE
Pentasomy X: report of patient and studies of X-inactivation.
Funderburk SJ, Valente M, Klisak I.
Am J Med Genet. 1981;8(1):27-33.
A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive ureteral stasis, pyelonephritis, and renal failure.