Three new patients with FATCO: Fibular agenesis with ectrodactyly

Biegański, Tadeusz; Jamsheer, Aleksander; Sowińska, Anna; Barańska, Dobromiła; Niedzielski, Kryspin; Kozlowski, K.; Czarny-Ratajczak, Malwina

doi:10.1002/ajmg.a.35369

“…Whole genome sequencing of infants blood is currently being performed. Discussion This is an important case to report as there are very few descriptions in the literature, [1][2][3][4][5] In keeping with the majority of reports, this case appears to be sporadic and development is normal. 1,3,4 Our case is male, keeping with preponderance.…”

supporting

confidence: 60%

“…1 Aetiology remains unknown, however defects involved in SHH (Sonic hedgehog) gene expression have been proposed. 2 Case description We report on a term male infant born with severe malformations. On examination, there was absence of the left radius and ulna, bilateral anterior angulation of lower limbs with skin dimpling overlying.…”

mentioning

confidence: 99%

“…1,3-5 Treatment aims at optimising functionality of limbs and stabilisations of joints. [1][2][3][4][5] Introduction Presence of obesity in mothers negatively affects antenatal life and decreases the sufficiency of Vitamin D in newborns. Recently, cytokines role in the regulation of the condition of the immune system during the development and in the course of infectious diseases was actively studied.…”

mentioning

confidence: 99%

See 1 more Smart Citation

GP238 Socio-demographic factors related to parent engagement in the neonatal intensive care unit (NICU)

Whitehill

¹

,

Smith

²

,

Colditz

³

et al. 2019

Abstracts

0

View full text Add to dashboard Cite

Objectives To determine 1) socio-demographic factors related to parent engagement in the NICU, and 2) determine if the Supporting and Enhancing NICU Sensory Experiences (SENSE) program increased parent engagement. Background Preterm birth results in significant health complications, necessitating infant hospitalization. This alters early sensory experiences which are further impacted by challenges parents face engaging in care 1 . Parent participation in appropriate sensory activities can improve infant developmental outcomes 2 . Methods Sixty-four infants born £ 32 weeks gestation were randomized to SENSE or standard of care. SENSE included parent education and specific amounts of age-appropriate sensory exposures for parents to conduct each day of hospitalization. Bedside logs were used to record parent engagement in providing sensory exposures to their infants. Results Being married (p=0.02) and having private insurance (p=0.003), a college degree (p=0.046) and fewer children (p=0.02) related to more parent engagement. The SENSE intervention was related to increased engagement for young mothers (p<0.001) and those living farther from the NICU (p<0.001) with trends toward more engagement among African-American parents (p=.07). Conclusion Those with high social risk are less likely to engage in the NICU, but the SENSE program increased engagement among some high-risk groups.

show abstract

“…At present, it appears reasonable to designate the nonsyndromal forms as those that include SHFM with limb-confined manifestations, that is, isolated SHFM and SHFLD. Fibular agenesis with ectrodactyly (OMIM 113310) has been described as a distinct clinical entity and includes fibular underdevelopment and median clefts of the hands and/or feet [Bieganski et al, 2012].…”

Section: Nonsyndromal Shfmmentioning

confidence: 99%

Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update

Gurrieri

¹

,

Everman

²

2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We here provide an update on the clinical, genetic, and molecular aspects of split-hand/foot malformation (SHFM). This rare condition, affecting 1 in 8,500-25,000 newborns, is extremely complex because of its variability in clinical presentation, irregularities in its inheritance pattern, and the heterogeneity of molecular genetic alterations that can be found in affected individuals. Both syndromal and nonsyndromal forms are reviewed and the major molecular genetic alterations thus far reported in association with SHFM are discussed. This updated overview should be helpful for clinicians in their efforts to make an appropriate clinical and genetic diagnosis, provide an accurate recurrence risk assessment, and formulate a management plan.

show abstract

“…1,3-5 Treatment aims at optimising functionality of limbs and stabilisations of joints. [1][2][3][4][5] Introduction Presence of obesity in mothers negatively affects antenatal life and decreases the sufficiency of Vitamin D in newborns. Recently, cytokines role in the regulation of the condition of the immune system during the development and in the course of infectious diseases was actively studied.…”

mentioning

confidence: 99%

GP240 Vitamin d sufficiency and cytokines level in newborns born by mothers with obesity

Kuryaninova

¹

,

Verisokina

²

,

Захарова

³

et al. 2019

Abstracts

0

View full text Add to dashboard Cite

Objectives To determine 1) socio-demographic factors related to parent engagement in the NICU, and 2) determine if the Supporting and Enhancing NICU Sensory Experiences (SENSE) program increased parent engagement. Background Preterm birth results in significant health complications, necessitating infant hospitalization. This alters early sensory experiences which are further impacted by challenges parents face engaging in care 1 . Parent participation in appropriate sensory activities can improve infant developmental outcomes 2 . Methods Sixty-four infants born £ 32 weeks gestation were randomized to SENSE or standard of care. SENSE included parent education and specific amounts of age-appropriate sensory exposures for parents to conduct each day of hospitalization. Bedside logs were used to record parent engagement in providing sensory exposures to their infants. Results Being married (p=0.02) and having private insurance (p=0.003), a college degree (p=0.046) and fewer children (p=0.02) related to more parent engagement. The SENSE intervention was related to increased engagement for young mothers (p<0.001) and those living farther from the NICU (p<0.001) with trends toward more engagement among African-American parents (p=.07). Conclusion Those with high social risk are less likely to engage in the NICU, but the SENSE program increased engagement among some high-risk groups.

show abstract

Three new patients with FATCO: Fibular agenesis with ectrodactyly

Cited by 23 publications

References 32 publications

GP238 Socio-demographic factors related to parent engagement in the neonatal intensive care unit (NICU)

GP238 Socio-demographic factors related to parent engagement in the neonatal intensive care unit (NICU)

Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update

GP240 Vitamin d sufficiency and cytokines level in newborns born by mothers with obesity

Contact Info

Product

Resources

About