Prenatal diagnosis of femur‐fibula‐ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

Capece, Giuseppe; Fasolino, A.; Monica, Matteo Della; Lonardo, Fortunato; Scarano, Gioacchino; Neri, Giovanni

doi:10.1002/pd.1970140616

Cited by 27 publications

(21 citation statements)

References 5 publications

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“…Moreover, we observed additional limb malformations: right club hand and absence of third and fourth fingers of the right hand, as previously described in the literature . Femoral‐fibula‐ulna (FFU) complex complex is usually unilateral, more prevalent in boys than in girls, affects mainly the right upper limb and has been described in a fetus at 24 weeks of gestation . Kardon et al .…”

Section: Discussionsupporting

confidence: 81%

Prenatal diagnosis and physical model reconstruction of agnathia–otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester

Menezes

Júnior

Lopes

et al. 2016

J of Obstet and Gynaecol

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Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team.

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Section: Discussionsupporting

confidence: 81%

Prenatal diagnosis and physical model reconstruction of agnathia–otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester

Menezes

Júnior

Lopes

et al. 2016

J of Obstet and Gynaecol

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“…hypoplasia of the lower limbs, aplasia of the right forearm and the right hand as well as ulnar ray defects of the left hand. This is in contrast to the previously published case report in which the fetus showed oligosyndactyly of the right hand, fibular aplasia and showed tibia on the left lower limb and bilateral club feet with an absent fifth toe [4].…”

Section: Discussioncontrasting

confidence: 55%

Prenatal Ultrasound Diagnosis of a Femur-Fibula-Ulna Complex during the First Half of Pregnancy

Florio¹,

Wisser²,

Huch³

et al. 1999

Fetal Diagn Ther

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A case of fetal femur-fibula-ulna (FFU) complex diagnosed by ultrasound is presented. Ultrasonographic features of a fetus displaying bilateral femoral hypoplasia, aplasia of the right forearm and the right hand, ray defects of the left hand are described. The importance of an early diagnosis of this malformation is emphasized with respect to parental counselling concerning prognosis and further prenatal management.

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“…Courtens et al [2005], who introduced the “FATCO” term, reported on an infant with oligosyndactyly of the left hand and the right foot, absence of the right fibula and bowing of the ipsilateral tibia, and referred to four other cases with findings which corresponded to FATCO [Hecht and Scott, 1981; Capece et al, 1994; Huber et al, 2003]. Thereafter, three new FATCO patients were documented [Kitaoka et al, 2009; Karaman and Kahveci, 2010; Vyskocil et al, 2011].…”

Section: Discussionmentioning

confidence: 99%

Three new patients with FATCO: Fibular agenesis with ectrodactyly

Biegański¹,

Jamsheer²,

Sowińska³

et al. 2012

American J of Med Genetics Pt A

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We document three new patients with fibular agenesis, tibial campomelia, and oligosyndactyly (FATCO). Two of these individuals had tetramelic manifestations while the third had bilateral abnormalities of the lower limbs. These patients and others reported as FATCO seem to belong to the phenotype "fibular aplasia with ectrodactyly." Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show any genetic abnormalities. ©

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Prenatal diagnosis of femur‐fibula‐ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

Abstract: We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur-fibula-ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU.

Cited by 27 publications

References 5 publications

Prenatal diagnosis and physical model reconstruction of agnathia–otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester

Prenatal diagnosis and physical model reconstruction of agnathia–otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester

Prenatal Ultrasound Diagnosis of a Femur-Fibula-Ulna Complex during the First Half of Pregnancy

Three new patients with FATCO: Fibular agenesis with ectrodactyly

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