1/4. Severe feeding difficulties in 3C syndrome.We describe a further patient with cranio-cerebellar-cardiac or 3C syndrome. She presented with the characteristic features of Dandy-Walker malformation of the brain, congenital cardiac defect, dysmorphic facies and post-natal growth failure. She had gastro-oesophageal reflux and severe feeding difficulties which are still present at the age of four years. Despite her numerous medical problems, she is demonstrating near-normal development. Feeding difficulties appear to be a prominent feature of the 3C syndrome.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/4. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.PURPOSE: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. methods: Clinical examination and chromosomal analysis were conducted. RESULTS: The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. CONCLUSIONS: This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
3/4. Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field.A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these cases.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
4/4. Gray scale ultrasound studies in neonatal infants with malformation of the brain.Ultrasound findings in four newborn infants with neurological abnormalities and abnormal facies are described. The ultrasound images are compared with the images achieved by computerized tomography and with the findings at postmortem in 3 of the patients. Accurate neuroanatomical diagnosis confirmed by CT and/or autopsy findings is demonstrated in all 4 cases. It is concluded that ultrasound, particularly using an automated water path scanner, is a viable alternative in the investigation of brain malformation in the neonate.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |