Hypoplastic limbs and cleft lip, palate

 
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Question :
Pramila Verma, Mahesh Maheshwari
Department of Pediatrics, Peoples College of Medical sciences & Research Centre, Bhanpur, Bhopal, Madhya Pradesh, India

Address for Correspondence: Dr Pramila Verma, Associate professor, Senior MIG– B10PCMS Campus, Peoples College of Medical Sciences & Research Centre, Bhanpur, Bhopal, Madhya Pradesh, India. Email: drpramilav@yahoo.com
A female baby with weight of 2.4 kg was born to a primigravida 18 years old mother. Baby was a product of non-consanguineous marriage and delivered at 36 weeks of gestation by normal vaginal delivery. Mother’s gestational period was uneventful with no history of teratogenic drug intake or radiation exposure. Baby had hypoplastic forearm along with flexion contractures at wrist joint. She had aplasia of both lower limbs and feet were attached directly to the trunk. In addition she was found to have oligodactyly in right hand, cleft lip and cleft palate.

What is the likely diagnosis_?
Expert Opinion :
Roberts syndrome {RBS} and SC phocomelia are autosomal recessive disorders. {1} RBS is characterized by symmetric limb reduction defects, craniofacial anomalies {skull, eyes, lip, and palate}, growth retardation, cardiac and renal abnormalities, flexion contractures of various joints and varied intellectual deficit. {2} These two syndromes represent part of a spectrum, with RBS at the most severe range in which severely affected infants may be stillborn or die in the post-natal period, while individuals with SC phocomelia correspond to the milder end of the spectrum and typically survive to adulthood. {3} Upper limb phocomelia is more common than lower limb phocomelia. Aplastic or hypoplastic thumbs, oligodactyly, clinodactyly or syndactyly can also occur. Differential diagnosis include DK Phocomelia syndrome, Odontotrichomelictetramelic ectodermal dysplasia, congenital hemidysplasia with ichthyosiform erythroderma and limb defects {CHILD} syndrome, syndrome of spleno-gonadal fusion. {4-8} RBS is also termed as “pseudo-thalidomide” syndrome because phenotypically it shares similarities to those caused by the ingestion of thalidomide by pregnant woman. {9} When a previous child in the family is diagnosed with RBS and carries ESCO2 mutations, prenatal diagnosis can be offered. Cytogenetic analysis of fetal cells obtained from chorionic villi samples at the first trimester, amniocentesis, or cord centesis during the second and third trimesters, is required to confirm the diagnosis prenatally. RBS may be suspected by observation of characteristic RBS anomalies at ultrasonography. Most individuals with RBS are stillborn or die in infancy when detected before viability, termination of pregnancy can be offered. {10} Management includes surgical correction of facial malformations, surgical and, or orthopedic treatment of limb defects and management of the cognitive disabilities. High mortality in the newborn period or early childhood is due to cardiac or renal malformations.

References
1. Roberts JB. A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities. Ann Surg. 1919, 70:252
2. Hermann J, Optiz JM. The Sc phocomelia and the Roberts Syndrome: nostalgic aspect. Eur. J Paediatr. 1977` 125:117-134
3. Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, et al. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010`47:30–37.
4. Romke C, Froster-Iskenius U, Heyne K, Höhn W, Hof M, Grzejszczyk G, et al. Robert syndrome and SC phocomelia. A single genetic entity. Clin Genet 1987` 31:170-177
5. Cherstvoy E, Lazjuk G, Lurie I, Ostrovskaya, T, Shved, I. Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities. Lancet 1980` 2{8192}:485.
6. Freire-Maia N. A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other anomalies. Am J Med Genet 1970`22:370-377.
7. Happle R, Koch H, Lenz W. The CHILD syndrome: congenital hemidysplasia with icthyosiform erythroderma and limb defects. Eur J Pediatr 1980`134:27-33.
8. Pauli RM, Greenlaw A. Limb deficiency and splenogonadal fusion. Am J Med Genet 1982`13:81-90.
9. Callen PW. Ultrasonography in Obstetrics and Gynecology. 5th Ed. Philadelphia, PA: Saunders Elsevier` 2008. pp. 464–6.
10. Murthy J, Dewan M, Hussain A. Roberts-SC syndrome, a rare syndrome and cleft palate repair. Indian J Plast Surg. 2008` 41: 222-225

Correct Answers : yes  21%

Last Shown : Jul 2015
 
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