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Prenatal diagnosis of Kagami-Ogata syndrome.
Molinet Coll C, Sabrià Bach J, Izquierdo Renau M, Alarcón Allen A, Monk D, Gómez Del Rincón O, Milà Recasens M, Martínez Crespo JM. Molinet Coll C, et al. J Clin Ultrasound. 2021 Jun;49(5):498-501. doi: 10.1002/jcu.22942. Epub 2020 Nov 12. J Clin Ultrasound. 2021. PMID: 33179779
To the best of our knowledge, this may be the first case where ultrasound findings such as: severe polyhydramnios, a small bell-shaped thorax, a protuberant abdomen and characteristic dysmorphic face prompted directed family interrogation finally leading to the pren …
To the best of our knowledge, this may be the first case where ultrasound findings such as: severe polyhydramnios, a small bell-shaped thora …
Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation.
Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP. Chandra N, et al. Am J Case Rep. 2016 Oct 14;17:745-748. doi: 10.12659/ajcr.898165. Am J Case Rep. 2016. PMID: 27739421 Free PMC article. Review.
We report the case of a one-day-old female baby with a short trunk, short neck, low hairline, apparently long limbs, protuberant abdomen, mild midfacial dysmorphism, low-set ears, and a high-arched palate. ...
We report the case of a one-day-old female baby with a short trunk, short neck, low hairline, apparently long limbs, protuberant a …
Short rib-polydactyly syndrome.
Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R. Naki MM, et al. Arch Gynecol Obstet. 2005 Jul;272(2):173-5. doi: 10.1007/s00404-004-0696-9. Epub 2004 Dec 17. Arch Gynecol Obstet. 2005. PMID: 15605271
CASE REPORT: We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia, polydactyly and extremely low set ears, depressed nasal bridge, and …
CASE REPORT: We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow …
Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature.
Xu N, Han X, Zhang Y, Huang X, Zhu W, Shen M, Zhang W, Jialin C, Wei M, Qiu Z, Zeng X. Xu N, et al. Arthritis Res Ther. 2022 Feb 26;24(1):58. doi: 10.1186/s13075-021-02706-5. Arthritis Res Ther. 2022. PMID: 35219330 Free PMC article. Review.
All 31 patients had hepatomegaly, abnormal liver function, fasting hypoglycaemia, hyperuricaemia, hyperlipaemia, and hyperlacticaemia. A protuberant abdomen, growth retardation, recurrent epistaxis, and diarrhoea were the most common clinical manifestations. ...
All 31 patients had hepatomegaly, abnormal liver function, fasting hypoglycaemia, hyperuricaemia, hyperlipaemia, and hyperlacticaemia. A …
Natural history of Sanfilippo syndrome type A.
Buhrman D, Thakkar K, Poe M, Escolar ML. Buhrman D, et al. J Inherit Metab Dis. 2014 May;37(3):431-7. doi: 10.1007/s10545-013-9661-8. Epub 2013 Nov 23. J Inherit Metab Dis. 2014. PMID: 24271936
More than 93% of the children experienced somatic symptoms such as hepatomegaly (67%), abnormal dentition (39%), enlarged tongue (37%), coarse facial features (76%), and protuberant abdomen (43%). Kaplan-Meier analysis showed a 60% probability of surviving past 17 y …
More than 93% of the children experienced somatic symptoms such as hepatomegaly (67%), abnormal dentition (39%), enlarged tongue (37%), coar …
Thirteen-week cornual ectopic pregnancy.
Gaber-Patel K, Smith MD. Gaber-Patel K, et al. Am J Emerg Med. 2009 Sep;27(7):900.e1-2. doi: 10.1016/j.ajem.2008.11.005. Am J Emerg Med. 2009. PMID: 19683132
We present the unusual case of a 13-week cornual ectopic pregnancy with fetal movement. The patient presented with a protuberant abdomen, intoxicated with cocaine and alcohol, and in hemodynamic compromise. ...
We present the unusual case of a 13-week cornual ectopic pregnancy with fetal movement. The patient presented with a protuberant a …
Fanconi-Bickel syndrome - mutation in SLC2A2 gene.
Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N. Kehar M, et al. Indian J Pediatr. 2014 Nov;81(11):1237-9. doi: 10.1007/s12098-014-1487-3. Epub 2014 Jun 10. Indian J Pediatr. 2014. PMID: 24912437 Free PMC article.
The authors report a 4-year-old boy who presented with failure to thrive, motor delay, protuberant abdomen and was noted to have huge hepatomegaly with glycogen deposition in liver, and renal tubular acidosis. ...
The authors report a 4-year-old boy who presented with failure to thrive, motor delay, protuberant abdomen and was noted to ha …
Childhood acquired lipodystrophy: a retrospective study.
Pope E, Janson A, Khambalia A, Feldman B. Pope E, et al. J Am Acad Dermatol. 2006 Dec;55(6):947-50. doi: 10.1016/j.jaad.2006.05.005. Epub 2006 Jun 13. J Am Acad Dermatol. 2006. PMID: 17097389
More than half of the patients had at least one complication attributable to LD such as acanthosis nigricans (22%), hyperpigmentation (22%), hepatomegaly (13%), hypertension (13%), protuberant abdomen (9%), and hyperlipidemia (4%). The only predictor for development …
More than half of the patients had at least one complication attributable to LD such as acanthosis nigricans (22%), hyperpigmentation (22%), …
Calciphylaxis in Association with Alcoholic Cirrhosis and Hepatorenal Syndrome.
Liebman TN, Tamez R, Daly JA. Liebman TN, et al. Skinmed. 2020 Jan 1;18(1):46-49. eCollection 2020. Skinmed. 2020. PMID: 32167457
On examination, the patient was a middle-aged white woman lying in bed in no acute distress, with jaundice and a protuberant abdomen consistent with ascites. The patient was afebrile (98.2F), heart rate of 79 beats per minute, blood pressure of 105/61 mmHg, respirat …
On examination, the patient was a middle-aged white woman lying in bed in no acute distress, with jaundice and a protuberant abdom …
Hepatomegaly and type 1 diabetes: a clinical case of Mauriac's syndrome.
Lombardo F, Passanisi S, Gasbarro A, Tuccari G, Ieni A, Salzano G. Lombardo F, et al. Ital J Pediatr. 2019 Jan 7;45(1):3. doi: 10.1186/s13052-018-0598-2. Ital J Pediatr. 2019. PMID: 30616577 Free PMC article.
Mauriac's syndrome is a rare disease, which includes short stature, growth maturation delay, dyslipidemia, moon facies, protuberant abdomen, hepatomegaly with transaminase elevation. It has become even less common after the emergence of advances on diabetes treatmen …
Mauriac's syndrome is a rare disease, which includes short stature, growth maturation delay, dyslipidemia, moon facies, protuberant …
23 results