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Page 1
Mixed gonadal dysgenesis.
Zäh W, Kalderon AE, Tucci JR. Zäh W, et al. Acta Endocrinol Suppl (Copenh). 1975;197:1-39. Acta Endocrinol Suppl (Copenh). 1975. PMID: 1094776 Review.
A personal case was recently studied by the authors in some detail: A 51-year-old individual reared as a female with primary amenorrhea, short stature, subnormal intelligence, male type habitus, hirsutism, moderate breast development, ambiguous external genitalia …
A personal case was recently studied by the authors in some detail: A 51-year-old individual reared as a female with primary amenorrhea, sho …
Fryns syndrome: report on 8 new cases.
Aymé S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Aymé S, et al. Clin Genet. 1989 Mar;35(3):191-201. doi: 10.1111/j.1399-0004.1989.tb02927.x. Clin Genet. 1989. PMID: 2650934 Review.
These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb …
These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), …
Hypogonadism and endocrine metabolic disorders in Prader-Willi syndrome.
Müller J. Müller J. Acta Paediatr Suppl. 1997 Nov;423:58-9. doi: 10.1111/j.1651-2227.1997.tb18371.x. Acta Paediatr Suppl. 1997. PMID: 9401541 Review.
Disturbances of the hypothalamic-pituitary-gonadal axis are reviewed in patients with Prader-Willi syndrome, and a brief account is given of thyroid function, adrenal function and glucose metabolism in such patients. Cryptorchidism, hypoplastic external genitalia …
Disturbances of the hypothalamic-pituitary-gonadal axis are reviewed in patients with Prader-Willi syndrome, and a brief account is given of …
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1.
Chen CP, Yip HK, Wang LK, Chern SR, Chen SW, Lai ST, Wu PS, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2017 Jun;56(3):385-389. doi: 10.1016/j.tjog.2017.04.023. Taiwan J Obstet Gynecol. 2017. PMID: 28600056 Free article. Review.
OBJECTIVE: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. ...Afte …
OBJECTIVE: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations an …
[XY type gonadal dysgenesis, trisomy X and variants].
Kikuchi I, Takeuchi H, Kinoshita K. Kikuchi I, et al. Nihon Rinsho. 2004 Feb;62(2):309-12. Nihon Rinsho. 2004. PMID: 14968537 Review. Japanese.
Complete type has bilateral gonads of cordee, does not show physical characteristics of Turner's syndrome, has the uterus and ovaries, and has the vagina in female type, though the external genitalia are immature. Incomplete type is characterized by bilateral testic …
Complete type has bilateral gonads of cordee, does not show physical characteristics of Turner's syndrome, has the uterus and ovaries, and h …
Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival.
Tonk VS. Tonk VS. Clin Genet. 1997 Jul;52(1):23-9. doi: 10.1111/j.1399-0004.1997.tb02510.x. Clin Genet. 1997. PMID: 9272709 Review.
We present a new case of i(9p) that presented to us early in infancy with significant dysmorphological features, including growth retardation, psycho-motor delay, hemifacial microsomia, auditory canal atresia, high-arched palate, bulbous nose, strabismus, epicanthic folds, congen …
We present a new case of i(9p) that presented to us early in infancy with significant dysmorphological features, including growth retardatio …
Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature.
King JA, Gardner V, Chen H, Blackburn W. King JA, et al. Pediatr Pathol Lab Med. 1995 Jan-Feb;15(1):57-79. doi: 10.3109/15513819509026940. Pediatr Pathol Lab Med. 1995. PMID: 8736598 Review.
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypoplastic or atelectatic lungs, limb deformities, edema, polyhydramnios, and short umb …
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short …
The fetal phenotype of the 18p-syndrome. Report of a male fetus at twenty-one weeks.
Göcke H, Muradow I, Stein W. Göcke H, et al. Ann Genet. 1988;31(1):60-4. Ann Genet. 1988. PMID: 3281573 Review.
Morphological and cytogenetic findings in a male fetus at 21 weeks gestation after prenatally detected monosomy 18p are reported. The fetus displayed dysmorphic features resembling the 18p-syndrome, such as decreased head circumference, slightly receding forehead, hypertel …
Morphological and cytogenetic findings in a male fetus at 21 weeks gestation after prenatally detected monosomy 18p are reported. The …