Greater trochanteric stippling in trisomy 7p

Wilde, Justin; Teele, Rita L.; Aftimos, Salim

doi:10.1007/s00247-006-0179-1

Cited by 3 publications

(5 citation statements)

References 6 publications

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“…The primary cranio-fascial abnormalities seen in cases include micrognathia, hypertelorism, low-set and malformed ears, a large fontanelle and wide sutures. 1,7,10 The findings in our case were also consistent with the literature. Severely large front fontanelles that do not close are specifically the most characteristic finding in patients with trisomy 7b syndrome.…”

Section: Discussionsupporting

confidence: 92%

“…Severely large front fontanelles that do not close are specifically the most characteristic finding in patients with trisomy 7b syndrome. 1 The patient's front fontanelle was still open during her exam performed at 21 months of age, and it was rather large. A large front fontanelle that closes late may also present with different genetic syndromes such as trisomy 13, trisomy 18, achondroplasia, and campomelic dysplasia; however, trisomy 7 should also be considered for differential diagnosis in such a situation.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical signs associated with this abnormality have been clearly defined. 1 These include psychomotor retardation, a wide and protruding forehead, posterior fontanelle remaining open, hypertelorism, low-set ear, abnormal palmar lines, ocular, genital, and cardiovascular abnormalities. 1,2 Changes in the number of copes such as chromosomal duplications or deletions may be associated with cardiovascular abnormalities.…”

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confidence: 99%

“…1 These include psychomotor retardation, a wide and protruding forehead, posterior fontanelle remaining open, hypertelorism, low-set ear, abnormal palmar lines, ocular, genital, and cardiovascular abnormalities. 1,2 Changes in the number of copes such as chromosomal duplications or deletions may be associated with cardiovascular abnormalities. 2 Various cardiovascular abnormalities may be seen in more than one-third of trisomy 7p patients.…”

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confidence: 99%

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Rare combination in an infant patient: trisomy 7p and tetralogy of Fallot

2022

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This case report presents an infant patient with the association of trisomy 7p and tetralogy of Fallot(ToF). Patients diagnosed with trisomy 7p should certainly be scheduled for an echocardiographic exam and be scanned for any CHD that may accompany it. The CHD that most frequently accompany this syndrome include atrial septal defect, ventricular septal defect, and patent ductus arteriosis. Yet, it should be known that ToF may also be present, albeit rarely.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Rare combination in an infant patient: trisomy 7p and tetralogy of Fallot

2022

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“…Table 1 summarizes the etiologies observed in CDP. Epiphyseal stippling has been described in other chromosomal anomalies such as trisomy 21, trisomy 18, trisomy of the short arm of chromosome 7 (Wilde et al, 2006), duplication of the short arm of chromosome 16 (Ishii et al, 1997), inversion of chromosome 8 (Castillo-Taucher et al, 1991), monosomy 45,X (Morrison, 1999), and chromosome abnormalities encompassing the ARSE gene at the Xp22.3 locus (Wulfsberg et al, 1992). Epiphyseal stippling can also be due to inborn errors of peroxysomal, cholesterol or lysosomal metabolism, disruption of vitamin K metabolism, teratogenic agents, maternal autoimmune disorders, and other rare but well-defined disorders ( Table 1).…”

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Epiphyseal punctate calcifications (stippling) in complete trisomy 9

et al. 2009

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Epiphyseal punctate calcifications (or epiphyseal stippling) are rare nonspecific prenatal features resulting from abnormal calcium deposition in enchondral bone formation sites. This abnormality belongs to a clinically and genetically heterogeneous group named chondrodysplasia punctata (CDP). The various etiologies observed in CDP include inherited errors of metabolism and skeletal dysplasias, anomalies of vitamin K metabolism, maternal autoimmune disorder, rare but well-recognized syndromes, and chromosomal abnormalities (Irving et al., 2008).We report on the prenatal diagnosis of complete trisomy 9 in amniotic fluid sampled following the discovery of epiphyseal punctuations and multiple congenital anomalies on second trimester fetal ultrasound. The diverse etiologies associated with epiphyseal stippling as well as suggestions for prenatal work-up are discussed.Fetal ultrasound at 22 weeks' gestation in a 26year-old G1P0 woman revealed multiple anomalies including brachycephaly, cerebellar vermis agenesis, corpus callosum agenesis, cleft lip and palate, ear anomalies, clenched hands, right renal agenesis, sacral vertebral anomalies and epiphyseal stippling in the hips and knees (Figure 1a).The woman and her husband were unrelated. During the first trimester, nuchal translucency thickness was 1.3 mm for a crown-rump length of 51 mm. Maternal serum screening estimated the Down syndrome risk at 1 : 400. The prospective parents were counseled and adviced that prognosis was poor because of the combination of severe malformations discovered on fetal ultrasound. They requested termination of pregnancy, and labor was induced at 24 weeks' gestation.The parents gave their consent for postmortem examination. The male fetus presented with intrauterine growth retardation (biometric measurements were compatible with 20 weeks' gestation-weight: 572.9 g, length: 32 cm, and OFC: 21.5 cm). He had multiple anomalies including brachycephaly, blepharophimosis, medial cleft lip and palate, micrognathia, hypoglossia, low-set malformed ears, prominent nose, short neck, clenched hands and feet, hypoplastic nails, elbow dislocation and fixed flexion of the hips, imperforate anus, penoscrotal hypoplasia, right renal agenesis and ureteral duplication of the left kidney, linear insertion of the atrioventricular valves without defect, thymic hypoplasia, and adrenal hypoplasia.Skeletal radiographs revealed epiphyseal stippling of the superior and inferior epiphyses of the femora (Figure 1b) and a calcification in the right hypochondria suggestive of a liver calcification. In addition, dislocations of shoulder, ankle, and hip articulations as well as flexion deformities of the joints of the hands were observed. Thirteen rib pairs were also noted. Neuropathologic findings revealed agenesis of the corpus callosum and postero-inferior hypoplasia of the vermis. Sterol quantifications on amniotic fluid obtained during termination of pregnancy were normal. Amniotic fluid culture karyotype revealed trisomy 9 in all 34 metaphases examined. Interphase...

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Rare combination in an infant patient: trisomy 7p and tetralogy of fallot

2022

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This case report presents an infant patient with the association of trisomy 7p and tetralogy of fallot (TEF). Patients diagnosed with trisomy 7p should certainly be scheduled for an echocardiographic exam and be scanned for any CHDs that may accompany it. The CHDs that most frequently accompany this syndrome include atrial septal defect, ventricular septal defect, and patent ductus arteriosis. Yet, it should be known that TEF may also be present, albeit rarely.

show abstract

Greater trochanteric stippling in trisomy 7p

Cited by 3 publications

References 6 publications

Rare combination in an infant patient: trisomy 7p and tetralogy of Fallot

Rare combination in an infant patient: trisomy 7p and tetralogy of Fallot

Epiphyseal punctate calcifications (stippling) in complete trisomy 9

Rare combination in an infant patient: trisomy 7p and tetralogy of fallot

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