What Is the Circumference of a 3 Month Old Baby Leg

Paediatr Child Health. 2014 Mar; xix(3): 123–125.

Example 2: A 20-month-old male child with asymmetric growth of the legs

Mihaela Lukova, MsC and Tanya Kadiyska, PhD

Department of Medical Chemistry and Biochemistry Medical University; Genetic-Medico Diagnostic Laboratory Genica

Albena Todorova, PhD

Section of Medical Chemical science and Biochemistry, Medical University

Vanyo Mitev, MD PhD

Section of Medical Chemistry and Biochemistry Medical University, Sofia, Bulgaria

A 20-month quondam boy with right-leg hyperplasia was referred to the authors' institution for a genetic consultation. The child was born post-obit an simple full-term pregnancy and delivery weighing 3150 g (20th percentile). There was no history of hypoglycemia in the newborn menses. The parents start noticed a difference in the size of his legs when the child was one month of age. At four months of age, a leg circumference discrepancy was first documented (iv cm in the thigh and 2.five cm in the lower leg). The child was referred to a vascular surgeon, who performed a Duplex ultrasound and documented normal arterial and venous claret menstruation, absence of arteriovenous malformations and varicosities, and possible lymphedema. At 12 months of age an orthopedic surgeon documented a leg length discrepancy of 2.v cm.

At the fourth dimension of referral, the boy was in good general health; his weight was 14 kg (99th percentile), meridian 85 cm (62nd percentile) and head circumference 47 cm (31st percentile). Discrete hyperplasia on the right side of the face was noted. Test revealed significant discrepancies in all leg measurements – the correct leg was two.5 cm longer, with increased circumference at the thigh (4 cm), genu (3 cm) and lower leg (2.5 cm) (Figure 1). On focused inspection, at that place was no prove of leg swelling, port-wine stains, vascular nevi, omphalocele, macroglossia, subcutaneous lipomata or ear creases/pits. He exhibited mild expressive language filibuster but otherwise normal development. Further diagnostic evaluation suggested the underlying diagnosis.

Photographs (left and centre panels) and x-ray (right panel) of the patient at 6 months of age

CASE 2 DIAGNOSIS: ISOLATED HEMIHYPERPLASIA

The preliminary diagnosis fabricated by the referring clinician was Klippel-Trenaunay-Weber syndrome (KTWS; Online Mendelian Inheritance in Human [OMIM] identification 149000). Isolated hemihyperplasia (IH; OMIM identification 235000) was considered as an alternative diagnosis because the diagnostic criteria for KTWS (vascular nevi, port-wine stains, arteriovenous malformations, varicosities at time of presentation) were non fulfilled. Features of other diagnoses that were considered, such equally neurofi-bromatosis blazon I (cafe-au-lait macules) and Proteus syndrome (multiple lipomata), were absent (ane). There were no phenotypic characteristics of Beckwith-Wiedemann syndrome (macroglossia, macrosomia or omphalocele). On assessment, the diagnostic considerations were singular KTWS or IH. The distinction was considered to be extremely important because children with KTWS do not have increased adventure for malignancies, while children with IH have a significantly increased gamble for embryonal cancers. In a study involving 51 patients with IH, 16% had paternal uniparental disomy (UPD) of 11p15, six% had hypomethylation at KCNQ10T1 (LIT1) and none had hypomethylation at H19 (2). There was show for somatic mosaicism in all eight cases of UPD. 4 (50%) of the eight patients with UPD had tumours, whereas but half dozen (15%) of the 40 patients without molecular alterations had tumours. Therefore, information technology appears that UPD at 11p15 significantly increases the risk for cancer in patients with IH. An analysis of the 11p15 region was undertaken in this patient, which may aid in the diagnosis and provide prognostic information regarding the risk of neoplasm evolution.

Cytogenetic analysis revealed a normal male karyotype (46 XY). The sequencing analysis did not show the E133K variant in the AGGF1 gene, reported to exist nowadays in some patients with KTWS. Assay of the 11p15.5 region revealed hypermethylation at H19DMR (imprinting control region [ICR] 1) and decreased methylation at KvDMR (ICR2) compared with five normal controls and the proband's parents (Effigy 2A). To confirm UPD, the polymorphic markers D11S1984, D11S922, D11S1318 and D11S4088 in the Beckwith-Wiedemann syndrome critical region 11p15.5, and D11S1346 (11p15.3) outside the critical region, were assessed (Figure 2B and ​ 2C). The results confirmed paternal UPD extending throughout the entire Beckwith-Wiedemann syndrome disquisitional region, with a normal result for D11S1346.

A Methylation-specific multiplex ligation-dependent probe amplification profile of H19DMR hypermethylation (indicated by ↑) and KvDMR hypomethylation (indicated by ↓), respective to paternal uniparental disomy at 11p15. B Fragment analysis – genetic profile of the marking D11S1984 (the paternal allele is indicated by the arrows). C Fragment analysis – genetic profile of the mark D11S4088 (the paternal allele is indicated past the arrows)

Based on the clinical findings and genetic testing, a diagnosis of IH was made. The risk of embryonal cancers was estimated to be high (lifetime risk of upwards to fifty%) and regular tumour screening (daily abdominal palpation by parents, abdominal ultrasound four times per year and serial measurements of serum alpha-fetoprotein levels) was recommended. The present case illustrates the importance of careful clinical examination, diagnostic imaging, and genetic consultation and testing in children with limb hemihyperplasia.

CLINICAL PEARLS

• Whatsoever child with suspected IH should be referred to a clinical geneticist or a clinician with experience in overgrowth syndromes and vascular malformations.

• Until the diagnosis of IH is ruled out or one time it is confirmed, the child should be regularly screened for abdominal tumours using intestinal ultrasounds and measurement of serum alpha-fetoprotein levels (3).

Acknowledgments

The report was partially supported by the grant No seven-D/2012, Medical University Sofia, Sofia, Republic of bulgaria. The project was approved past the Committee for Scientific Research Ethics.

REFERENCES

1. Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: Diagnostic criteria and hypothesis on etiology. Ann Plast Surg. 2008;threescore:217–23. [PubMed] [Google Scholar]

two. Shuman C, Smith AC, Steele L, et al. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor run a risk and occurs following assisted reproductive technologies. Am J Med Genet A. 2006;140:1497–503. [PubMed] [Google Scholar]

3. Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet Med. 2009;11:220–2. [PMC gratis commodity] [PubMed] [Google Scholar]

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Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959968/

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