Characterization of a group unrelated patients with arthrogryposis multiplex congenita

Valdés-Flores, Margarita; Casas-Avila, Leonora; Hernández-Zamora, Edgar; Kofman, Susana; Hidalgo-Bravo, Alberto

doi:10.1016/j.jped.2015.04.008

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ORIGINAL ARTICLES • J. Pediatr. (Rio J.) 92 (1) • Jan-Feb 2016 • https://doi.org/10.1016/j.jped.2015.04.008 copy

Characterization of a group unrelated patients with arthrogryposis multiplex congenita^☆ ☆ Please cite this article as: Valdés-Flores M, Casas-Avila L, Hernández-Zamora E, Kofman S, Hidalgo-Bravo A. Characterization of a group unrelated patients with arthrogryposis multiplex congenita. J Pediatr (Rio J). 2016;92:58-64.

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

OBJECTIVE:

Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita.

METHODS:

Patients were diagnosed by physical and radiographic examination and the family history was evaluated.

RESULTS:

Of the 50 cases, nine presented other features (pectum excavatum, cleft palate, mental retardation, ulnar agenesis, etc.). Environmental factors, as well as prenatal and family history, were analyzed. The chromosomal anomalies and clinical entities associated with arthrogryposis multiplex congenita were reported. No chromosomal aberrations were present in the cases with mental retardation. Three unrelated familial cases with arthrogryposis multiplex congenita were observed in which autosomal recessive, autosomal dominant and X-linked inheritance patterns are possible. A literature review regarding arthrogryposis multiplex congenita was also conducted.

CONCLUSIONS:

It is important to establish patient-specific physical therapy and rehabilitation programs. A multidisciplinary approach is necessary, with medical, surgical, rehabilitation, social and psychological care, including genetic counseling.

Keywords:
Contracture; Arthrogryposis; Amyoplasia congenita

Patient	Sex	Affection	Associated data
1^a	F	Four limbs	Pectus excavatum
2	F	Four limbs	Cleft palate and mental retardation
3	F	Four limbs	Cleft palate
4	F	Four limbs	Ehlers-Danlos (type III)
5	F	Lower limbs	Ulnar agenesis and polydactyly of hands
6	F	Upper limbs	Cubital pterigium
7^b	F	Four limbs	Constriction bands
8^c	M	Four limbs	Mental retardation
9	F	Four limbs	Osteogenesis imperfecta (type I)

Symbol	OMIM	Locations	Other clinical name	Clinical features
AMC	108110	NR	AMC, Amyoplasia.	Talipes equinovarus. Round face with capillary hemangioma and slightly small jaw.
AMCX1	301830	Xp11.23-q11.2	AMC X-linked, Spinal Muscular atrophy	Hypotonia, areflexia, chest deformities, facial dysmorphic features, and congenital joint contractures. X-linked disorder.
AMCN	208100	5q35	AMC, neurogenic	Marked talipes equinovarus. The male/female ratio was 2:1. Neuropathic arthrogryposis.
–	208155	NR	Illum syndrome. Lethal syndrome of AMC	AMC with whistling face and developmental retardation. Excessive salivation, temperature instability, apnea, and bradycardia.
–	162370	NR	Neuropathy congenital with AMC	Severe foot deformities and weakness atrophy distal. Proximal muscles with less weakness. Autosomal dominant inheritance.
FADS	208150	11p11.2, 4p16.3	Pena-Shokeir syndrome.	Cerebro-oculo-facio-skeletal. Intrauterine growth retardation, lung hypoplasia, cleft palate, and cryptorchidism.
COFS	214150	10q11.23	Pena-Shokeir syndrome, type II	Autosomal recessive progressive neurodegenerative disorder. Microcephaly, cataracts, mental retardation. Facial dysmorphism.
DA1A	108120	9p13.3	Type 1AB	Camptodactyly. Talipes equinovarus. Hypoplastic finger creases.
DA1B	614335	12q23.2	Type 1B	Congenital talipes equinovarus (clubfoot), congenital vertical talus, camptodactyly, and ulnar deviation of the fingers.
DA2A	193700	17p13.1	Freeman Sheldon syndrome	Hand & foot contractures. “Whistling face”. Scoliosis.
DA2B	601680	9p13.3, 11p15.5, 17p13.1	Sheldon-Hall syndrome	Prominent nasolabial fold. Small mouth. Down-slanted palpebral fissures.
DA3	114300	18p11.22-p11.21	Gordon syndrome	Short stature and short neck. Cleft palate.
DA4	609128	2q36	Arthrogryposis	Scoliosis severe.
DA5	108145	18p11.22-p11.21	Type 5	Arthrogryposis with oculomotor limitation and electroretinal abnormalities. Ptosis and strabismus. Pulmonary disease.
DA5D	615065	2q37.1	Type 5D	Congenital hip dislocation. Short neck and lower limb muscle atrophy; mild to severe scoliosis. Autosomal recessive inheritance.
DA6	108200	NR	Type 6	Arthrogryposis and sensorineural deafness.
DA7	158300	17p13.1	Trismus-pseudocamptodactyly	Short stature. Poor mouth opening.
DA8	265000	2q37.1	Multiple pterygium syndrome (non-lethal)	Congenital spinal abnormalities. Vertical talus. Autosomal dominant.
BPS	263650	21q22.3	Multiple pterygium syndrome, aslan type (lethal)	Hypoplastic maxilla, low-set ears, bony synostosis.
DA9	121050	5q23.3	Beals syndrome	Congenital contractural arachnodactyly. Gracile fingers. Marfanoid habitus. Crumpled ears.
DA10	187370	2q31.3-q32.1	Type 10	Congenital plantar contractures tendon calcaneus. Toe-walking gait.

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[1] Corresponding author. E-mail: edgarhz1969@yahoo.com.mx (E. Hernández-Zamora).