We report on two Korean siblings with multiple congenital anomalies : microcephaly, gyral abnormality, minor facial anomalies, and congenital nephrotic syndrome. The first infant developed proteinuria at age 3 days. This condition appeared similar to that described by Galloway and Mowat and reviewed by Cooperstone, et al, especially the presence of abnormal gyral patterns. She died at 19 months. The second infant; the brother of the first baby had a very similar condition. These two cases may represent the first cases of Galloway-Mowat syndrome in the Korean population.
Humans ; Infant ; Microcephaly ; Nephrotic Syndrome ; Proteinuria ; Siblings*

The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with various neurological abnormalities and early onset of nephrotic syndrome with unresponsiveness to treatment, progressive deterioration in renal function and death in early lifetime. In this report, we describe a girl with microcephaly, seizures. and psychomotor retardation who developed nephrotic syndrome at 17 months of age.
Female ; Humans ; Microcephaly* ; Nephrotic Syndrome* ; Seizures

The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with various neurological abnormalities and early onset of nephrotic syndrome with unresponsiveness to treatment, progressive deterioration in renal function and death in early lifetime. In this report, we describe a girl with microcephaly, seizures. and psychomotor retardation who developed nephrotic syndrome at 17 months of age.
Female ; Humans ; Microcephaly* ; Nephrotic Syndrome* ; Seizures

Humans ; Microcephaly ; Pedigree ; Nervous System Malformations ; Glucose

Seckel syndrome is a rare autosomal recessive disease. The characteristic features of Seckel syndrome include Intrauterine and postnatal growth deficiency, severe microcephaly, and a bird-like head. General appearance of our patient was characterized by Pre- and postnatal growth retardation, microcephaly, large eye, and a beaked nose. The patient had mental retardation with CNS anomalies. The CNS anomalies seen in the patient included cerebral dysgenesis and cerebellar atrophy. So, we report the case of CNS anomalies in Seckel syndrome.
Animals ; Atrophy ; Beak ; Head ; Humans ; Intellectual Disability ; Microcephaly ; Nose

OBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with Seckel syndrome. METHODS: Clinical data of the proband and his family members were collected. Potential mutations were detected by high-throughput sequencing and Sanger sequencing. RESULTS: The proband, a 7-year-and-3-month-old boy, has featured proportioned dwarfism, microcephaly, "bird head" appearance (narrow and backward forehead, prominent and protruded eyes, beak-shaped nose and microretrognathia), high-arched palate, enamel dysplasia, hypodontia, and mental retardation. His parents and two sisters were all phenotypically normal. The proband was found to harbor compound heterozygous c.1535T>A (p.L512X) and c.3346-5T>C (splicing) mutations of the CEP152 gene, which were respectively inherited from his mother and father. CONCLUSION The clinical features and genetic mutation of a case with Seckel syndrome were delineated. The newly discovered mutations have expanded the spectrum of CEP152 gene mutations.
Child ; Dwarfism ; Humans ; Intellectual Disability ; Male ; Microcephaly ; Micrognathism ; Mutation

Child ; Humans ; Carbohydrate Metabolism, Inborn Errors ; Microcephaly ; Psychomotor Disorders ; Seizures

Seckel syndrome, also called bird-headed dwarfism, is an extremely rare, inherited, autosomal recessive disorder. The patients with Seckel syndrome are characterized by growth retardation, microcephaly with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose. A literature review reveals that they have multiple anesthetic problems such as difficult airway management, difficult venous cannulation and concomitant medical diseases. We describe our experience in anesthetic management of a 21-month-old male patient with Seckel syndrome associated with pneumonia who underwent orchiopexy for bilateral cryptochidism.
Airway Management ; Birds ; Catheterization ; Dwarfism ; Humans ; Infant ; Intellectual Disability ; Male ; Microcephaly ; Nose ; Orchiopexy ; Pneumonia

We have experienced a case of 13 ring chromosome in a 40-month-old girl who demonstrated psychomotor retardation with delayed speech, growth retardation, hearing loss(left), microcephaly, trigonocephaly with flat occiput, hypertelorism, epicanthal folds, microophthalmia, broad prominamt nasal bridge, high arched palate, micrognathia, large auricles and other anomalies. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46, XX, r13. Her parents' karyotypes were normal. We reported the case with the review of the associated literatures.
Child, Preschool ; Craniosynostoses ; Cytogenetics ; Female ; Hearing ; Humans ; Hypertelorism ; Karyotype ; Lymphocytes ; Microcephaly ; Palate ; Ring Chromosomes*

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.
Acetyl-CoA C-Acyltransferase* ; Congenital Abnormalities ; Dermatoglyphics ; Female ; Humans ; Intellectual Disability ; Isoleucine ; Karyotype ; Metabolism ; Microcephaly ; Trisomy*