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Letter to Editor Sep 2012; Vol 22 (No 3), Pp: 432-433 Iran J Pediatr Letter to Editor Sep 2012; Vol 22 (No 3), Pp: 432-433 Isolated Lower Limb Phocomelia – a Rare Limb Malformation pregnancy. First born baby died at the age of 10 postnatal day, cause is unknown, but he was apparently not having any congenital Priyanka Bansal*, MD; Akhil Bansal, MD, and malformation. Physical examination revealed Shitalmala Devi, MD weight 4.8 kg, length 54.5 cm, head circumference 36.5 cm, no facial dysmorphism, spine normal. Only deformity was phocomelia of Jawaharlal Nehru Medical College, Department of Pathology, India Jan 29, 2011 Mar 24, 2012 left lower limb (Fig. 1). Systemic examination was normal. X ray pelvis with both lower limbs Received: ; Accepted: showed left lower limb showed absent femur, tibia and fibula, a single tarsal bone visualized, Phocomelia, ie the absence or severe hypoplasia distal foot appears grossly normal. Right hip and of the long tubular bones with more or less femur do not reveal any abnormality. Chest X ray intact hands and or feet, is widely known to be was absolutely normal and abdominal the most spectacular[1] finding of thalidomide sonography abdomen and cranianl showed no embryopathy . It may be complete in the form abnormality. 2-dimensional echocardiography that proximal and distal bones of limb are absent was done to rule out congenital heart defect, or may be incomplete when either proximal or which was also[2] normal. distal bones are missing. It is known to occur in Phocomelia in the complete form, the arm some familial[10] syndromes such as Roberts[8] and forearm are absent in the upper limb and syndrome , the DK Phocomelia syndrome the thigh and leg are absent in the lower limb and in a few other extremely rare syndromes. (the hands and feet sprout directly from the Phocomelia syndromes are multiple malforma- trunk). The deficiency may be proximal (arms tions syndrome that includes skeletal, and thighs missing) or distal (forearms and legs genitourinary such as renal agenesis, gastro- missing). This malformation was seen with intestinal system, eye abnormalties eg cloudy thalidomide embryopathy or could be a part of corneas, craniofacial abnormalities including some pseudo–thalidomide syndromes, which silvery blonde hair, extensive[11] hemangiomas and could be familial. Certain syndromes are hypoplastic nasal cartilage . These syndromes reported where phocomelia is one of the include autosomal recessive form of VACTERL- features along with other congenital[3] hydrocephaly syndrome (David-O’Callaghan malformations ie Roberts[4] syndrome , DK syndrome), X-linked recessive form (Hunter Phocomelia syndrome Odontotrichomelic[5] MacMurray) syndrome, DK-phocomelia (von tetramelic ectodermal dysplasia , congenital Voss-Cherstvoy) syndrome and Laurin-Sandrow hemidysplasia with ichthyosiform erythroderma[6] Syndrome (LSS). and limb defects (CHILD)[7]syndrome , Syndrome The present report represents an instance of of spleno-gonadal fusion . isolated lower limb phocomelia without other The Robert SC syndrome is associated with defects which is very rare. A 3 month, male child phocomelia and craniofacial abnormality presented with complaints of malformed left including hypertelorism, hypoplastic nasal alae, lower limb since birth. Baby was normal cleft lip and palate and chromosomal vaginally delivered, full term with birth weight abnormality in about half of the cases. being 2.7 kg. Antenatal and perinatal history was Autosomal recessive inherited DK phocomelia uneventful, no history of any drug intake, syndrome is associated with phocomelia, radiation exposure or infections during oligodactyly, thrombocytopenia and heart, brain * Corresponding Author; Address: E-mail: [email protected] Neonatal Care Unit District Hospital Shivpuri (MP),Pediatrics, India Iran J Pediatr, Vol 22 (No x); xxx 2012 433 Fig. 1: Phocomelia of left lower limb in a case with isolated malformation and kidney malformations; CHILD syndrome 3. Romke C, FrosterClin -GenetIskenius U, Heyne K, et al. consists of phocomelia, icthyosis, brain and Robert syndrome and SC phocomelia. A single heart malformations. Another syndrome in this genetic entity. 1987;31(3):170-7. domain is limb/pelvis-hypoplasia/aplasia 4. Cherstvoy E, Lazjuk G, Lurie I, et al. Syndrome of multiple congenital malformationsLancet including syndrome which is associated with unusual phocomelia, thrombocytopenia, encephalocele, facies, thoracic dystrophy and [8,9deficiencies] in and urogenital abnormalities. 1980; upper and lower extremities . The case 2(8192):485. described in this report had only isolated lower 5. Freire-Maia N. A newly recognized genetic limb phocomelia and no other malformations as syndrome Amof J Med tetramelicGenet deficiencies, described in above mentioned syndromes which ectodermal dysplasia, deformed ears, and other anomalies; 1970;22(4):370-7. makes this case rare and academically 6. Happle R, Koch H, Lenz W. The CHILD important. Eursyndrome: J Pediatr congenital hemidysplasia with In this case phocomelia is confined to only one icthyosiform erythroderma and limb defects. 1980;134(1):27-33. lower limb with no other congenital defect. It Am J Med Genet does not seem to be familial. With proper 7. Pauli RM, Greenlaw A. Limb deficiency and prosthesis and other orthopedic rehabilitation, splenogonadal fusion. 1982; baby may live normal life. Isolated one limb 13(1):81-90. phocomelia has better prognosis compared to 8. Concolino D, Sperll D, Cinti R, et al. A mild formClin Genetof Robert-SC phocomelia syndrome with Keyother words: variety, needs attention in this report. asymmetrical reduction of the upper limbs. 1996;49(5):274-6. Phocomelia; Pregnancy; Malformation 9. EvIiyae, Glu N, Temocin AK, et al. Phocomelia,Clin Gentectrodactily, skull defect and urinary system anomaly: Schinzel phocomelia syndrome. References 1996;49(2):70-3. 10. Urban M, Opitz Ch, Bommer Ch, et al. Bilaterally cleft lip, limbAm J Meddefects, Genet and haematological 1. ClinNewman Perinatol CGH. The thalidomide syndrome: risk manifestations: Robert syndrome versus TAR of exposure and spectrum of malformations. syndrome. 1998;79(3):155-60. 1986;13(3):555-73. Prosthet Orthot Int 11. EuropHerrmannJ PediatrJ, Opitz JM. The SC Phocomelia and 2. Day HJ. The ISO/ISPO classification of the Roberts syndrome: Nosologic Aspects. congenital limb deficiency. 1997;125(2):117-34. 1991;15(2):67-9..
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