Topic
Flat occiput
About: Flat occiput is a research topic. Over the lifetime, 5 publications have been published within this topic receiving 91 citations.
Papers
TL;DR: The findings in this patient and in six previously reported cases of a ring 14 suggest that a characteristic clinical syndrome is associated with this chromosome aberration.
Abstract: An infant girl with ring chromosome 14 is presented The findings in this patient and in six previously reported cases of a ring 14 suggest that a characteristic clinical syndrome is associated with this chromosome aberration The major features of the ring chromosome 14 syndrome include mental retardation, a disorder of skin pigmentation, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears
45 citations
TL;DR: An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation and high resolution chromosome analysis identified a de novo direct duplication of the 2p21.00-->p24.2 region.
Abstract: An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated ears, a small mandible, a short neck with a low hair line, and eye malformations High resolution chromosome analysis identified a de novo direct duplication of the 2p2100-->p242 region The phenotype of de novo partial trisomy 2p is discussed
28 citations
TL;DR: Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput, hypertelorism and long upper lip were the main signs in the girl.
Abstract: Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3-year-old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput, hypertelorism and long upper lip were the main signs in the girl.
14 citations
TL;DR: An 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis presents a retroperitoneal neuroblastoma, and it seems that present association has not been previously reported.
Abstract: We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, micrognathia, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis. In the follow-up he presented a retroperitoneal neuroblastoma. Although this type of tumor has been referred to develop in several genetic and mutimalformative syndromes, it seems that present association has not been previously reported.
12 citations
TL;DR: The authors' patients with 9p-syndrome show typical stigmata when compared with the 28 know cases described in the literature, and only A.K. lacks two features present in all the others: flat occiput and micrognathia.
Abstract: Our patients with 9p-syndrome show typical stigmata when compared with the 28 know cases described in the literature . In Table 1 we compared our 4 cases with those previously described. Only A.K. lacks two features present in all the others: flat occiput and micrognathia.
4 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2009 | 1 |
| 2008 | 1 |
| 1997 | 1 |
| 1984 | 1 |
| 1981 | 1 |