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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1988 1
1993 1
1994 1
1995 1
1996 2
1997 1
1998 1
2000 2
2006 2
2008 2
2009 1
2010 2
2011 2
2012 2
2014 1
2015 1
2016 2
2021 3
2023 3
2024 0

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29 results

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Page 1
Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L. Larizza L, et al. Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Orphanet J Rare Dis. 2010. PMID: 20113479 Free PMC article. Review.
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, ra …
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short statur …
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B, Mazzanti L, Roche N, Hennekam RC. De Maria B, et al. Am J Med Genet A. 2016 Aug;170(8):1989-2001. doi: 10.1002/ajmg.a.37757. Epub 2016 May 19. Am J Med Genet A. 2016. PMID: 27196381 Review.
In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the corners of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in bot …
In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the cor …
Genetics of human isolated hereditary hair loss disorders.
Basit S, Khan S, Ahmad W. Basit S, et al. Clin Genet. 2015 Sep;88(3):203-12. doi: 10.1111/cge.12531. Epub 2014 Nov 22. Clin Genet. 2015. PMID: 25350920 Review.
It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, including both syndro …
It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightl …
Deletion (2)(q37).
Stratton RF, Tolworthy JA, Young RS. Stratton RF, et al. Am J Med Genet. 1994 Jun 1;51(2):153-5. doi: 10.1002/ajmg.1320510215. Am J Med Genet. 1994. PMID: 8092193 Review.
We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis …
We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistul …
The etiology of osteosarcoma.
Ottaviani G, Jaffe N. Ottaviani G, et al. Cancer Treat Res. 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. Cancer Treat Res. 2009. PMID: 20213384 Review.
Patients may have a few or multiple clinical features including skin rash, small stature, skeletal dysplasias, sparse or absent scalp hair, eyebrows or eyelashes, juvenile cataracts, and gastrointestinal disturbance including chronic emesis and diarrhea; its …
Patients may have a few or multiple clinical features including skin rash, small stature, skeletal dysplasias, sparse or absent sc
Trichorhinophalangeal syndrome type III.
Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G. Itin PH, et al. Dermatology. 1996;193(4):349-52. doi: 10.1159/000246290. Dermatology. 1996. PMID: 8993967 Review.
This symptom complex is inherited as an autosomal dominant trait and clinically characterized by growth retardation, craniofacial abnormalities, severe brachydactyly and sparse hair. In addition, absence of mental retardation and cartilaginous exostoses are required …
This symptom complex is inherited as an autosomal dominant trait and clinically characterized by growth retardation, craniofacial abnormalit …
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.
Butler KM, Bahrambeigi V, Merrihew A, Friez MJ, Cathey SS. Butler KM, et al. Clin Dysmorphol. 2021 Oct 1;30(4):167-172. doi: 10.1097/MCD.0000000000000387. Clin Dysmorphol. 2021. PMID: 34456244 Review.
OBJECTIVES: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita of the sca
OBJECTIVES: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autos …
Aesthetic and plastic surgery for trichorhinophalangeal syndrome.
Morioka D, Hosaka Y. Morioka D, et al. Aesthetic Plast Surg. 2000 Jan-Feb;24(1):39-45. doi: 10.1007/s002669910008. Aesthetic Plast Surg. 2000. PMID: 10742468 Review.
Trichorhinophalangeal syndrome is an autosomal dominant disorder characterized by a number of clinical features including short stature, sparse scalp hair, a pear-shaped bulbous nose, upper lip deformity, protruding ears, mandibular hypoplasia, and cone-shape …
Trichorhinophalangeal syndrome is an autosomal dominant disorder characterized by a number of clinical features including short stature, …
Blepharo-cheilo-dontic (BCD) syndrome: case report.
Iida A, Narai S, Takagi R, Ono K, Ikeda N. Iida A, et al. Cleft Palate Craniofac J. 2006 Mar;43(2):237-43. doi: 10.1597/04-200.1. Cleft Palate Craniofac J. 2006. PMID: 16526930 Review.
PATIENT: The patient was a 14-day-old boy born uneventfully on August 7, 2002. His scalp hair was sparse and curly. A tumor on the top of his head, which was thought to be a dermoid cyst, and a nevus on the back of his left hand were observed. ...
PATIENT: The patient was a 14-day-old boy born uneventfully on August 7, 2002. His scalp hair was sparse and curly. A t …
Coexistence of giant blue nevus of the scalp with hair loss and alopecia areata.
Takeichi S, Kubo Y, Murao K, Inoue N, Ansai S, Arase S. Takeichi S, et al. J Dermatol. 2011 Apr;38(4):377-81. doi: 10.1111/j.1346-8138.2010.01020.x. Epub 2010 Nov 11. J Dermatol. 2011. PMID: 21352287 Review.
Fibrous, thick collagen bundles were also seen surrounding the upper part of the small hair follicles. There was no infiltration of melanocytes or lymphocytes in the lower dermis or adipose tissue. Based on these findings, a diagnosis of blue nevus, cellular type, was made …
Fibrous, thick collagen bundles were also seen surrounding the upper part of the small hair follicles. There was no infiltration of m …
29 results