Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild

Kumar, Dhavendra; Duggan, Margo; Mueller, Robert F.; Karbani, G.

doi:10.1002/(sici)1096-8628(19970516)70:2<107::aid-ajmg1>3.0.co;2-v

Cited by 18 publications

(8 citation statements)

References 15 publications

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“…AARRS is an autosomal recessive disorder, which is characterized by the presence of profound limb and pelvic deficiency, thoracic dystrophy, and genital anomalies. Limb anomalies consist of short and bowed radii, aplasia of ulna and fibula, hypoplastic or aplastic femur, hypoplasia/aplasia of tarsals, carpals, metatarsals, metacarpals, and phalanges [Al-Awadi et al, 1985;Richieri-Costa, 1987;Raas-Rothschild et al, 1988;Camera et al, 1993;Kumar et al, 1997]. The findings found in our patient appear similar to those of AARRS.…”

Section: Discussionsupporting

confidence: 79%

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

Kantaputra

Tanpaiboon

2004

American J of Med Genetics Pt A

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We report on a 3-year-old Thai boy with limb, pelvic, and genital malformations. The combination of findings found in this patient is similar to that of Al-Awadi/Raas-Rothchild syndrome (AARRS) or limb/pelvis hypoplasia/aplasia syndrome. The upper limbs are more severely affected than the lower ones. Unlike that of AARRS, the radial ray is more severely affected than the ulnar ray. The presence of humeroulnar synostosis and humero-ulnar-radial synostosis and the absence of a radius distinguishes it from AARRS. The similarities and dissimilarities between the features in the present patient and other limb-pelvic hypoplasia/aplasia syndromes are discussed. The findings in this group of patients appear to demonstrate limb-pelvis-genital organ developmental field defects.

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Section: Discussionsupporting

confidence: 79%

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

Kantaputra

Tanpaiboon

2004

American J of Med Genetics Pt A

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“…Moreover, no defect of the ulna and a straight femur characterizes FATCO syndrome, whereas skeletal abnormalities in Fuhrmann syndrome include aplasia/hypoplasia of the ulna, hypoplasia of the pelvis, aplasia/hypoplasia of the femur, fibular aplasia, and variable digital abnormalities, as well as absent/dysplastic nails. In the family with Fuhrmann syndrome originally described by Kumar et al (12), Woods et al found an A109T mutation in the WNT7A gene, which controls the dorsoventral patterning (9). Overlap has been recognized between Fuhrmann syndrome and Al-Awadi/Raas-Rothschild syndrome (MIM 276820).…”

Section: Discussionmentioning

confidence: 99%

“…Overlap has been recognized between Fuhrmann syndrome and Al-Awadi/Raas-Rothschild syndrome (MIM 276820). Accordingly, Woods et al demonstrated a homozygous missense mutation in the WNT7A gene, R292C, in a consanguineous family in which three members had been diagnosed with Al-Awadi/Rass-Rothschild syndrome (12). In our case, absence of mutations in the WNT7A gene implies that FATCO syndrome and Furmann syndrome are distinct.…”

Section: Discussionmentioning

confidence: 99%

A Japanese Male Patient with Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report

Kitaoka

Namba

Kim

et al. 2009

Clin Pediatr Endocrinol

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We report a male infant with FATCO syndrome, an acronym for fibular aplasia, tibial campomelia, and oligosyndactyly. Courtens et al. reported an infant with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. They noted 5 patients with similar clinical features, and proposed the FATCO syndrome. Our patient had a left-sided cleft lip, cleft palate, oligosyndactyly of the right hand and bilateral feet, and bilateral anterior bowing of the limbs associated with overlying skin dimpling. Radiographs showed a short angulated tibia with left fibular aplasia and right fibular hypoplasia. We consider our case the 6th patient with FATCO syndrome, and the cleft lip and palate, not reported in the previous 5 patients, may allow us to further understand the development of the extremities and facies.

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“…Aplasia/hypoplasia of pelvis, femur, fibula, and ulna syndrome, described in four children from an inbred family by Kumar et al [1997]…”

Section: Discussionmentioning

confidence: 99%

Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: A case report and review of the literature

Courtens

Jespers

Harrewijn

et al. 2005

American J of Med Genetics Pt A

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We report on a male newborn with a rarely described congenital limb deficiency syndrome consisting of shortening and anterior bowing of the right lower limb at the distal third of the tibia with associated overlying soft tissue dimpling, oligodactyly of the right foot, and a left-sided oligosyndactyly of the hand. The right hand and left lower limb were clinically normal. Radiographic examination revealed complete absence of the right fibula, absence of the right-sided Vth ray, and anterior bowing and shortening of the right-sided tibia. Femora, humeri, ulnae, and radii were normal. The infant had neither facial dysmorphia nor other associated anomalies. A limb deficiency syndrome comparable to this case has been reported in a female by Hecht and Scott, the only report classified under OMIM 246570 so far. We found two other reports describing three cases comparable to our case and the female reported by Hecht and Scott, and reviewed these cases. The major common findings in all the five cases consist of fibular aplasia, tibial campomelia, and oligosyndactyly. Therefore, we propose to name it fibular aplasia-tibial campomelia-oligosyndactyly (FATCO) syndrome. Additional case reports are needed for further delineation of this rare limb deficiency syndrome.

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Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild

Cited by 18 publications

References 15 publications

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

A Japanese Male Patient with Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report

Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: A case report and review of the literature

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