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Page 1
The Coffin-Siris syndrome. A report of four cases and review of the literature.
Lucaya J, Garcia-Conesa JA, Bosch-Banyeras JM, Pons-Peradejordi G. Lucaya J, et al. Pediatr Radiol. 1981;11(1):35-8. doi: 10.1007/BF00972041. Pediatr Radiol. 1981. PMID: 7019832 Review.
This disorder is characterized by the absence or hypoplasia of the nails, especially those of the fifth fingers and toes, growth retardation and mental deficiency, microcephaly, coarse facial appearance, sparse scalp hair and lax joints. Feeding difficulties and respirator …
This disorder is characterized by the absence or hypoplasia of the nails, especially those of the fifth fingers and toes, growth reta …
Congenital curved nail of the fourth toe: Report of three cases and review of the literature.
Hirata Y, Shiiya C, Miyamoto J, Saito M. Hirata Y, et al. J Dermatol. 2022 Sep;49(9):925-927. doi: 10.1111/1346-8138.16486. Epub 2022 Jun 6. J Dermatol. 2022. PMID: 35670035 Review.
Here, we report three typical cases who presented congenital curving nail on both their fourth toes. Their X-ray showed that the distal phalanges of the fourth toes were short. Thus far, 19 cases of CNFT were reported in English literature. ...
Here, we report three typical cases who presented congenital curving nail on both their fourth toes. Their X-ray showed that the d …
Polydactyly of the foot. Literature review and case presentations.
Galois L, Mainard D, Delagoutte JP. Galois L, et al. Acta Orthop Belg. 2002 Oct;68(4):376-80. Acta Orthop Belg. 2002. PMID: 12415940 Review.
Polydactyly is a fairly common congenital condition of the foot and is characterized literally by supernumerary toes (digit or metatarsal). The frequency of polydactyly varies widely among populations. ...Polydactyly is generally classified into three major groups: medial …
Polydactyly is a fairly common congenital condition of the foot and is characterized literally by supernumerary toes (digit or metata …
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.
Danarti R, Rahmayani S, Wirohadidjojo YW, Chen W. Danarti R, et al. Eur J Dermatol. 2020 Aug 1;30(4):404-407. doi: 10.1684/ejd.2020.3850. Eur J Dermatol. 2020. PMID: 32969800 Review.
RESULTS: A 27-day-old baby girl was brought to us with a history of recurrent seizures and absence of all finger- and toenails since birth. In addition, physical examination revealed left eye strabismus and a single transverse palmar crease on both hands. X-rays of the han …
RESULTS: A 27-day-old baby girl was brought to us with a history of recurrent seizures and absence of all finger- and toenails since …
Symphalangism in children. Case report and review of the literature.
Letts M, Davidson D, Beaulé P. Letts M, et al. Clin Orthop Relat Res. 1999 Sep;(366):178-85. Clin Orthop Relat Res. 1999. PMID: 10627733 Review.
The fusion can involve the proximal or the distal joints; however, involvement of the proximal interphalangeal joints is more common. ...The authors present the case of a 9-year-old boy with bilateral symphalangism of the proximal interphalangeal joints in the fingers and …
The fusion can involve the proximal or the distal joints; however, involvement of the proximal interphalangeal joints is more common. …
Bilateral cleft lip and palate and limb deformities: a presentation of amniotic band sequence?
Jabor MA, Cronin ED. Jabor MA, et al. J Craniofac Surg. 2000 Jul;11(4):388-93. doi: 10.1097/00001665-200011040-00021. J Craniofac Surg. 2000. PMID: 11314389 Review.
We report a case of a child born with bilateral complete cleft lip and palate, absence of the left lower leg, complete absence of the right arm, and absence of the second and third distal phalanges of the right foot. The child had no other associated abnormalitie …
We report a case of a child born with bilateral complete cleft lip and palate, absence of the left lower leg, complete absence of the right …
The role of nonvascularized toe phalanx transplantation.
Buck-Gramcko D. Buck-Gramcko D. Hand Clin. 1990 Nov;6(4):643-59. Hand Clin. 1990. PMID: 2269677 Review.
Stabilization of boneless finger stumps or lengthening of partially aplastic digits in congenital malformations is difficult, because the bone graft, placed on top of the existing bone, will undergo resorption. ...Follow-up examinations of 44 patients with 69 transplanted …
Stabilization of boneless finger stumps or lengthening of partially aplastic digits in congenital malformations is difficult, because …
Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation.
Seitz CS, Hamm H. Seitz CS, et al. Br J Dermatol. 2005 Jun;152(6):1339-42. doi: 10.1111/j.1365-2133.2005.06509.x. Br J Dermatol. 2005. PMID: 15949005 Review.
Congenital hyponychia and anonychia are frequently accompanied by underlying skeletal abnormalities. A 20-year-old woman showed congenital bilateral hypoplasia or aplasia of the second, third and fourth toenails with corresponding phalanx dysplasia or aplasia …
Congenital hyponychia and anonychia are frequently accompanied by underlying skeletal abnormalities. A 20-year-old woman showed conge …
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
Kantaputra PN, Chalidapong P. Kantaputra PN, et al. Am J Med Genet. 2000 Jul 17;93(2):126-31. doi: 10.1002/1096-8628(20000717)93:2<126::aid-ajmg9>3.0.co;2-s. Am J Med Genet. 2000. PMID: 10869115 Review.
The father had polysyndactyly of triphalangeal thumbs, syndactyly of fingers, duplicated distal phalanx of the left great toe, brachymesophalangy of toes, and the absence of middle phalanges of some toes. ...His daughter was more severely affected, hav …
The father had polysyndactyly of triphalangeal thumbs, syndactyly of fingers, duplicated distal phalanx of the left great toe, brachy …
Pfeiffer's syndrome family tree. Review of the literature.
Lyon JR, Burgess RC. Lyon JR, et al. Clin Orthop Relat Res. 1993 Sep;(294):294-8. Clin Orthop Relat Res. 1993. PMID: 8358932 Review.
Pfeiffer's syndrome is an autosomal dominant disorder characterized by craniofacial abnormalities and distal extremity abnormalities. This case study reviews four generations of a family with craniofacial abnormalities, multiple simple syndactylies, an …
Pfeiffer's syndrome is an autosomal dominant disorder characterized by craniofacial abnormalities and distal extremity abno …