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Page 1
Expanding the phenotypic spectrum of the Baller-Gerold syndrome.
Temtamy SA, Aglan MS, Nemat A, Eid M. Temtamy SA, et al. Genet Couns. 2003;14(3):299-312. Genet Couns. 2003. PMID: 14577674 Review.
We report on two sisters off-spring of healthy consanguineous parents, where their major clinical features absent thumb, radial aplasia and craniosynostosis led to a diagnosis of Baller-Gerold syndrome BGS (OMIM:218600). ...
We report on two sisters off-spring of healthy consanguineous parents, where their major clinical features absent thumb, radia …
Dorsal dimelia of the index finger in a patient with absent thumb and radial club hand.
Al-Qattan MM. Al-Qattan MM. Ann Plast Surg. 2011 Jul;67(1):90-1. doi: 10.1097/SAP.0b013e3181ee70c9. Ann Plast Surg. 2011. PMID: 21407067 Review.
We report the first human case of dorsal dimelia of a radial digit (index finger) in a patient with absent thumb and radial club hand. Associated anomalies of previously reported cases of dorsal dimelia are reviewed and their pathogenesis is discussed....
We report the first human case of dorsal dimelia of a radial digit (index finger) in a patient with absent thumb and radial cl …
Prognostic value of thumb pain sensation in birth brachial plexopathy.
Heise CO, Martins RS, Foroni LH, Siqueira MG. Heise CO, et al. Arq Neuropsiquiatr. 2012 Aug;70(8):590-2. doi: 10.1590/s0004-282x2012000800006. Arq Neuropsiquiatr. 2012. PMID: 22899029 Free article.
OBJECTIVE: To evaluate the prognostic value of absent thumb pain sensation in newborns and young infants with birth brachial plexopathy. ...Patients with less than antigravity elbow flexion at six months of age were considered to have a poor outcome. RESULTS: Thirty …
OBJECTIVE: To evaluate the prognostic value of absent thumb pain sensation in newborns and young infants with birth brachial p …
Radial longitudinal deficiencies with hypoplastic/absent thumbs and cutaneous syndactyly of the most radial digits.
Satake H, Ogino T, Takahara M, Watanabe T, Iba K. Satake H, et al. J Hand Surg Am. 2010 Sep;35(9):1497-501. doi: 10.1016/j.jhsa.2010.06.013. J Hand Surg Am. 2010. PMID: 20807627
PURPOSE: To describe radial longitudinal deficiency with hypoplastic or absent thumb and cutaneous syndactyly between the most radial digits. ...
PURPOSE: To describe radial longitudinal deficiency with hypoplastic or absent thumb and cutaneous syndactyly between the most …
Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.
Hodes ME, Gleiser S, DeRosa GP, Yune HY, Girod DA, Weaver DD, Palmer CG. Hodes ME, et al. J Craniofac Genet Dev Biol. 1981;1(1):49-55. J Craniofac Genet Dev Biol. 1981. PMID: 7341641
Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, pati …
Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip …
Limb reduction defects in humans associated with prenatal isotretinoin exposure.
Rizzo R, Lammer EJ, Parano E, Pavone L, Argyle JC. Rizzo R, et al. Teratology. 1991 Dec;44(6):599-604. doi: 10.1002/tera.1420440602. Teratology. 1991. PMID: 1805430
He also had ventriculomegaly and developmental delay, minor dysmorphic facial features, and a short sternum with a sterno-umbilical raphe. The fetus had a unilaterally absent thumb with normal proximal bony structures. Other findings included hydrocephalus, craniofa …
He also had ventriculomegaly and developmental delay, minor dysmorphic facial features, and a short sternum with a sterno-umbilical raphe. T …
Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings.
Merrill A, Rosenblum-Vos L, Driscoll DA, Daley K, Treat K. Merrill A, et al. Prenat Diagn. 2005 Jan;25(1):20-2. doi: 10.1002/pd.1055. Prenat Diagn. 2005. PMID: 15662710
Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hemato …
Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, abse …